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Calculating genetic risk to keep you healthy

What is Genetic Risk?

Genetic risk is the probability of a person developing a particular health condition which tells you how susceptible you are (genetically) to that condition.How is this quantified?

Genetic risk for a condition can be evaluated and quantified using certain statistical entities like odds ratio (OR), relative risk (RR), absolute risk (AR) etc, which are calculated based on the status of SNPs (whether present or absent) in a particular individual and the genetic risk contributed by one or more of these SNPs towards the condition.

Xcode’s genetic assessments use Relative Risk to quantify genetic risk.

What is Relative Risk?

Relative risk (RR) is the probability of a person carrying the SNP developing the health condition when compared to a person without the SNP developing the same health condition.

Relative risk values are typically derived from odds ratio, which is the probability value that indicates the association between specific SNPs and the health condition and this is obtained from case-control studies.

These values are interpreted for the entire population and given for an individual as relative risk.

Understanding your risk score

For example, a person has a relative risk of 2.0 for Diabetes, which implies that the person has two times the risk for developing Diabetes when compared to a normal person (who will be given a relative risk value of 1.0).

Relative risk values below 1 indicate that the person has a reduced risk for that condition.

Genetic testing for BRCA1 and BRCA2 mutations

Genes are the storehouse of all biological information

Even as we inherit our genes from our parents, we also inherit some of the gene mutations that can cause significant changes in our body. Mutations are variations in the genetic code of a gene that can alter or affect its functions. These inherited mutations, however small they are, can increase our risk to certain diseases.

Research studies have established that BRCA1 (Breast Cancer Susceptibility Gene 1) and BRCA2 (Breast Cancer Susceptibility Gene 2) genes are linked to breast cancer. Mutations of these genes that belong to a class of genes known as tumour suppressors are linked to hereditary breast and ovarian cancers. While it is true that not all genetic changes or mutations are harmful, a woman who inherits this faulty or harmful genetic mutation in BRCA1 or BRCA2 is prone to the risk of developing breast or ovarian cancer before menopause. It is also very likely that breast and ovarian cancers run in the family with some of her close family members being diagnosed with the diseases. Apart from breast and ovarian cancers, harmful BRCA1 mutations are also likely to increase a woman’s risk of developing cervical, uterine, pancreatic and colon cancer and harmful BRCA2 mutations may increase risk of pancreatic, stomach, gall bladder, bile duct cancers and melanoma. However researchers add that not all women who hail from families with a history of breast or ovarian cancer are carriers of harmful mutation and further not every woman who has inherited this deleterious mutation will develop breast or ovarian cancer.

How does a woman learn whether she is or not a carrier of the faulty gene?

Genetic testing plays a key role in detecting BRCA1 and BRCA2 mutations. Genetic testing gives the woman the chance to learn if her family history of breast cancer is due to an inherited gene mutation.

BRCA gene test is conducted to identify the harmful changes in the DNA of the two breast cancer susceptibility genes. Genetic counselling by qualified professionals in the field of cancer genetics is usually recommended before and after the test to discuss with the candidate about the importance of the test, its benefits, and implications of its outcome, psychological impact and the inherent risk of passing on the mutations to one’s kids.

A woman becomes a candidate for BRCA gene testing under the following conditions:

If she is diagnosed with breast cancer at an early stage in life (prior to menopause) or ovarian cancer or both;

If any of her close relatives (mother or sister) or one of her second degree relatives tests positive for a faulty gene;

If there is a history of early onset of breast cancer or ovarian cancer in her family with one or more close family members being diagnosed with breast cancer or ovarian cancer or both;

If there is a relative with identified mutations of BRCA1 and BRCA2 genes;

What should a woman who tests positive for BRCA mutation do?

A woman who tests positive now understands that she has a high lifetime risk of developing breast or ovarian cancer. However she should also understand that just because she is a carrier of the faulty gene, it does not mean that she would certainly develop the disease.

The woman who has the harmful BRCA1 or BRCA2 mutation will be placed under the radar of surveillance that includes periodical mammography and clinical breast examinations in the case of breast cancer and for ovarian cancer, surveillance methods include transvaginal ultrasound, blood tests and clinical exams. Screening will go a long way in detecting breast cancers early enough to be successfully treated with minimal damage to the quality of life of the individual.

The option of resorting to surgery as a pre-emptive step to reduce the risk of developing cancer is also explored by some women. Prophylactic surgery involving removal of tissues that are more exposed to risk i.e., prophylactic mastectomy (removal of healthy breasts) and prophylactic salpingo-oophorectomy (removal of healthy fallopian tubes and ovaries) might offer some degree of protection against the development of breast and ovarian cancers. However, this does not offer any guarantee against development of the diseases.

Prescription of drugs like tamoxifen has shown to reduce the risk of developing breast cancer in women, who are at premenopausal stage and who are at increased risk of developing the disease. Clinical studies have also proved that the drug also serves to reduce the risk of recurrence of breast cancer in women who are already undergoing treatment for a breast tumour diagnosed earlier. Similarly, raloxifene is another drug that has shown to reduce the risk of developing invasive breast cancer in postmenopausal women.

It is imperative that women who seek risk avoidance measures like surgery or intake of drugs should discuss their options in detail with their physicians before implementing them.

Advantages of genetic testing

Genetic testing for breast cancer will help in taking the fight against cancer to the next level. For those women who have known reasons like strong family history of the disease, it is essential to consider being tested for a genetic mutation. However, the risk for developing the disease in women with the faulty genes varies from individual to individual.

Though genetic testing for cancer can cause a lot anxiety, stress, anger, guilt and even chronic depression in some individuals, it can have its own benefits irrespective of the outcome of the test. While it gives a sense of direction by way of adoption of preventive measures to those who test positive for a faulty gene, those who test negative experience a great sense of relief which helps in motivating them to increase their awareness.

Risk factors for breast cancer other than genetic mutations

Apart from inheritance of harmful genetic mutations it is common wisdom that women empower themselves with the knowledge of the factors that increase or decrease their chances of developing breast or ovarian cancer. The following factors have a significant impact on the onset of the diseases:

Hereditary risk:

Women who have a first degree or second degree relative with breast or ovarian cancer is at increased risk for developing the diseases. Besides, women who have already had breast cancer are at an increased risk of recurrence or developing ovarian cancer.

Age:

Age is a crucial factor. The risk of developing breast or ovarian cancer increases with age. Genetic mutations can lead to early onset of the disease.

Hormonal influences:

The greater the exposure of a woman’s body to oestrogen, a hormone that stimulates breast tissue, the greater is her risk for developing the disease. Women whose menstrual periods commenced early or whose menopause set in late (after 55) and women who delivered their first child at 30 or beyond are said to be prone to breast cancer as these events in their lives indicate increased exposure of their bodies to oestrogen.

Hormone replacement therapy:

Women who undergo hormone replacement therapy for symptoms of menopause are at an increased risk of breast cancer, besides heart attack, stroke and blood clots.

Medical and hereditary risks apart, there are certain lifestyle factors like obesity, lack of physical activity, alcohol consumption and increased intake high-fat diet that contribute to the risk of developing breast cancer.

The fight against breast cancer calls for a proactive approach by empowering oneself with the knowledge about the disease and through intelligent use of the support system that has been put in place by scientists in the field of genetic research. As a woman if you have valid reasons to worry about your chances of developing the disease, it is time you explored the option of genetic testing as a preventive strategy that could embolden your spirit, imbibe confidence and direct you on the path of preventive self- care.

The gene that gives you a free license to have as much milkshake as you can

Scientists have long known the effects of Apolipoproteins (APO) in human fat transport and utilization. When present, ApoC-III that limits the body’s ability to metabolize fats called triglycerides. When absent, the body metabolizes all available triglycerides, leading to very low levels in blood. One of the best ways to to get more definitive answers about a gene is to completely remove it from an organism and observe the effects of its elimination. If the gene is absolutely essential to life, the organism does not survive. Otherwise, the organism survives with the effects of the genes removal, which the scientists study. The poor thing I have been referring to as “organism” is the humble mice, the organism of choice. Mice and other animals have to date saved countless human lives by sacrificing their own. Thank you!

A study on knockout mice in 2011 indeed showed that knocking out a gene known as APOC3 leads to very low levels of triglycerides. What is more interesting is that in 2017, a group of researchers studying inbreeding populations in pakistan found a human equivalent of the APOC3 deficient mice.

In Pakistan, first cousin marriages are fairly common. That raises the chances of parents passing identical copies of genes to their children. The research group sequenced the DNA of 10,503 Pakistanis who are participating in a long-term heart disease and diabetes study and found several fully knocked-out genes. The team then looked for abnormalities in about 200 clinical blood biomarkers such as cholesterol, triglycerides, etc.

In this study, the group identified a whole family where both parents and all nine of their children lack the APCO3 gene. When the family members were given a fat-laden milkshake, as part of the study, their blood fat levels barely rose, suggesting they have little artery-clogging fat in their bodies and should be protected against heart attacks. The family also seemed perfectly healthy, so ApoC-III–blocking drugs now in clinical testing should be safe.

Though, this study was about human knockouts (people in whom this gene is completely absent, which are extremely rare), the rest of us carry variations in the APOC3 gene which affects our triglyceride levels and heart health in various ways.

Learning about the APOC3 and other gene polymorphisms you carry can help you modulate dietary fat intake and other appropriate interventions that are optimal for your genetics.

These extremely rare human superheroes are saving humanity from deadly diseases

They carry genetic defects that should have killed or disabled them long ago. But they defied the odds to live on and fight on. Not only did they survive the fatal genetic flaws, but they also hold the clues to defeating fatal human diseases, just as they have.

These are not people like you and me. These are genetic super heroes. They carry genes that are one in several hundred million. Technically, people like them are not supposed to be alive. But strange quirks of biology have allowed them to survive and they are using this good fortune to help millions of others in their fight against various diseases.

There are approximately 26,000 genes in the human body regulating functions from determining your hair color to the most intricate functions of your liver. Nature in its wisdom provided two copies of each gene, though no one really knows why, some other animals have 3 or even four copies of the same gene.

Genes are like a pack of cards. One set of cards (genes) is received from father and the other from mother. If both the copies of the same gene are good ones (normal biological function), then you are good. If one of them is bad, then you are still good, because the good one will cover for the bad one. But if both of them are defective, then that’s not a good thing. Think of genes like a pair of kidneys. People can make do with one kidney, but if both are bad, then they have to go for dialysis.

People who marry within families have a high probability of receiving both defective copies, if there are many defective copies floating within the family or a closely marrying community. As an example, if there are many two’s in a deck of cards, the the probability of pulling a two from the deck is higher. Similarly, if there are many defective carriers in the family, then the probability of defective being passed on to the child when two defective carriers marry is very high. This is the reason why consanguinity is discouraged. In some cases, a gene is completely absent, a condition known as knockout.

In mice, scientist can deliberately remove a gene to study what happens to the health of the mice when that gene is removed, a process known as “knocking out” the gene. They do this to study the critical functions of particular genes. However, humans won’t allow scientist do such things to them, not at least wilfully. Hence, the only recourse is to find natural human knockouts, an anomaly created by nature.

Already these individuals have made considerable contribution to science. The following are a few examples

The development of the new cholesterol drug known as PCSK9 was based on discovery that some individuals have abnormally low LDL cholesterol levels. While investigating the cause, scientist found that these individuals lack a protein called PCSK9 and if this protein can be injected into anyone’s body, their cholesterol will drop. This is precisely what happened in clinical trials

A recent study discovered a small fishing community in Pakistan which completely lacks the APOC3 gene (APOC3 knockout). For these individuals consuming high fat diet does not increase their triglycerides. Thanks to the discovery of this community, new drug development targeting this gene can help millions of people suffering from heart disease in future.

Animals that lack the Myostatin protein have significantly higher proportion of muscle than those whose bodies produce this protein. Human knockouts are extremely rare, but their discovery can lead to the development of drugs for muscle wasting disease.

There are other such examples and scientists are only getting started and hope to develop drugs and therapies for many disease by studying these rare human super heroes and analyzing how they survived, against many odds. This learning can help defeat many diseases and help millions live a healthy life.

I will leave you with a thought – are you a knockout? Do you have a hidden gene secret in your genome? If so, you can save millions of people from potentially life threatening conditions. Be a hero and find out your genetic secrets that could save humanity.

MMP3 – “The Risk of Injury Gene”

The Matrix Metalloproteinase 3 (MMP3) gene is associated with the synthesis of matrix metalloproteinase 3 (also called Stromelysin-1), an enzyme which is associated with the breakdown of extra cellular matrix during the normal physiological process. MMP3 is required to maintain Extra Cellular Matrix (ECM) homeostasis and it contributes to the material integrity, as well as the mechanical properties of tendons. An elevated expression of the MMP3 gene has been shown to be associated with increased degeneration of the matrix, resulting in an imbalance, with a greater rate of degradation when compared to the synthesis.

There are two single nucleotide polymorphisms associated with this gene, rs679620 and rs3025058. People with the G variant (rs679620) of this gene are shown to be associated with increased level of MMP3 expression. Variants of the gene are shown to be associated with changes in the extracellular matrix which affects the risk of muscle injury and the wound healing

Association with Muscle Injury:

The Achilles tendon is the largest tendon in the body, connecting the heel bone to the calf muscle. It is used while walking, jumping or running. An injury in the Achilles tendon, called Achilles tendinopathy, can be painful and is a big hindrance to athletes. A study conducted on South African athletes showed that the two SNPs G variant (rs679620) and 5A variant (rs3025058) were associated with Achilles tendinopathy. In another study conducted on Caucasians, people with the G variant (rs679620) were shown to be significantly associated with an increased risk for Achilles tendinopathy. In another study that analyzed the influence of MMP3 gene on Achilles t

endon pathology, the G variant of the gene was found to be over represented in people with Achilles tendon rupture. In a study conducted on people with anterior cruciate ligament injuries, people with the 5A variant were shown to be overrepresented.

LIPC “HDL Gene”

The hepatic lipase gene (LIPC) is associated with the synthesis of hepatic lipase enzyme (LIPC) which catalyzes the hydrolysis of fat. Hepatic lipase converts intermediate-density lipoprotein (IDL) to low-density lipoprotein (LDL).It is expressed in the liver and in the adrenal glands. Specific alleles of this gene are known to either increase or decrease hepatic lipase levels, and due to linkage disequilibrium, the levels of lipoprotein lipase, which is associated with variations in the plasma HDL levels. People with the T variant of the gene are shown to be associated with higher baseline HDL levels.

Association with Weight Loss Upon Exercise: People with the C variant of the gene were associated with reduction in weight, body fat and visceral fat.

Association with Plasma Lipoprotein Levels upon Exercising (atherogenic effects): In a study investigating the effects of endurance training on plasma lipoprotein levels, people with the C variant of the gene have been found to be associated with exercise mediated reduction in VLDL and increase in HDL. The benefit of exercise was found to be more in men with CC genotype than women.

Association with Childhood Obesity:

In a meta-analysis study conducted on children, boys with the T allele had a higher BMI and higher risk of obesity. In another study, boys with the T variant of the gene were found to be associated with higher HDL level on high fat intake.

Association with Dietary Fat intake:

In a study conducted to determine gene-nutrient interactions, people with the T variant on a low fat diet (less than 30% of energy from fat) have been shown to be associated with higher HDL levels. In a study conducted to identify how Chinese, Malays and Asian Indians in Singapore were exposed to similar environment but where Asian Indians had three times the rates of myocardial infarction compared to Chinese, found that a complex interplay of environmental and genetic factors gave rise to these ethnic differences. A high fat diet was shown to be associated with higher serum triglyceride and lower HDL-cholesterol concentrations in people with the T variant while those with the C variant were shown to be associated with lower serum triglyceride and higher HDL cholesterol under the same dietary conditions. People with the T variant of the gene may have an impaired adaptation to a high fat diet, increasing the risk for cardiovascular disease.

Association with Insulin Sensitivity:

In a study conducted on the LIPC gene variant and insulin sensitivity, the baseline insulin sensitivity was found to be similar between the gene variants but, upon exercising, people with the C variant were shown to be associated with higher insulin sensitivity. In a similar study, men with the T variant were shown to be associated with an improvement in insulin sensitivity when MUFA and carbohydrate rich are consumed instead of SFA fat. There was no association with women with the T variant and between diet and insulin sensitivity among men and women with the C variant.

ACE “The Endurance Gene”

The Angiotensin Converting Enzyme (ACE) gene is associated with the synthesis of Angiotensin Converting Enzyme (ACE), a key enzyme necessary to convert angiotensin I to angiotensin II, which regulates blood pressure. A 287 bp Alu repeat element in this gene has been shown to be associated with the level of ACE. The absence or deletion of this repeat is associated with higher levels of enzyme, which increases the conversion of angiotensin I to angiotensin II.

During physical exercise, people with the deletion are associated with higher blood pressure as higher levels of the enzyme cause higher levels of angiotensin II. This is associated with a lower maximal heart rate and lower maximum oxygen uptake (VO2max).

When this repeat element is deleted, it will not be detected on a particular genotyping array, so a proxy SNP in Linkage Disequilibrium with the candidate gene is utilised. The rs4343 proxy SNP is utilised in our panel as it has a significant association with the insertion/deletion of the ACE gene. People with the G variant are associated with deletion of the repeat.

Association with Running Ability:

A study conducted on elite runners showed that those with the G variant (rs4343) of ACE gene were associated with faster sprinting time compared to people with the A variant. In another study, people with the A variant were found to be associated with better endurance.

Association with Salt Sensitivity and Hypertension:

In terms of hypertension/ salt sensitivity, the ACE enzyme plays a key role in the regulation of blood pressure based on salt intake. People with the A variant of the gene were shown to be associated with elevated blood pressure on increased intake of salt.

Association with Carbohydrate Sensitivity to Obesity:

With respect to carbohydrate sensitivity, a study conducted on obese individuals, a high daily carbohydrate intake was found twas shown to be associated with higher likelihood of obesity among people with GG genotype than among people with the AA genotype. People with the GG genotype tolerate carbohydrates less well when compared to those with the AA genotype.

GABPB1 “ The Energy Gene”

GA‐binding protein (GABP) transcription factor gene, also known as the Nuclear Respiratory Factor 2 (NRF2) gene is associated with the synthesis of GABPB1, a key transcriptional activator of numerous nuclear genes which produce various mitochondrial enzymes. The variants of the GABPB1 gene that code for the beta1 subunit of NRF2 protein have been shown to be associated with endurance. Specific alleles of this gene are known to either increase or decrease GABPB1 which stimulates mitochondrial biogenesis upon exercising.

Association with Running:

A study conducted on track and field athletes showed that people with the A variant of the gene were more common among endurance athletes than non-athletes. In a similar study conducted on elite endurance, elite power and non-athletes, it was found that people with the A variant were found to be more common among elite endurance athletes.

Association with Aerobic Capacity:

People with the A variant of the gene were associated with better baseline aerobic capacity and an increase in VO2 max upon aerobic training, when compared with people with the C variant of the gene.

BDNF “Exercise Motivation Gene”

The Brain Derived Neurotrophic Factor (BDNF) gene is associated with the synthesis of brain derived neurotrophic factor, an enzyme that acts on the neurons of the central nervous system and the peripheral nervous system. This enzyme is shown to be associated with long term memory. In our panel, BDNF is used to understand the level of motivation towards exercise and in the tendency for weight regain.

Association with Tendency to Regain Weight:

In a study conducted on 3899 overweight or obese individuals, people with the G variant were shown to be associated with a greater weight regain (0.77kg per risk allele).

In another study that analyzed 16 gene polymorphisms associated with weight maintenance, people with the G variant were found to be associated with greater weight regain after behavioural weight loss intervention strategy.

Association with Motivation to Exercise:

People with the G variant of the gene who are at a higher risk for weight regain are also shown to be associated with lower level of motivation to exercise (which could be the reason for the increased weight regain). It is important to identify the extent of intrinsic motivation to exercise as these people tend to be more consistent with their exercise regimes.

In a study conducted on people who exercised by running on the treadmill, an association was shown between the presence of the A variant of the gene and an increased motivation to exercise. Such people were more likely to continue to exercise even when they were asked to stop.

#Exercise For Weight Loss #exercise for fitness

Exercise for weight loss

#Exercise for weight loss

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#Nutridiet #Nutrition

The Serum and Glucocorticoid regulated kinase 1 (SGK1) gene is associated with the synthesis of serum and glucocorticoid regulated kinase 1, an enzyme which is associated […]

The Serum and Glucocorticoid regulated kinase 1 (SGK1) gene is associated with the synthesis of serum and glucocorticoid regulated kinase 1, an enzyme which is associated with stress response. This kinase is also known to be associated with renal sodium retention. Increase in SGK1 is shown to be associated with increased sodium reabsorption and increase in blood pressure.

Our ancestors who loved between 2 million and 10,000 years ago were hunters and consumed less than 1g/day of salt from the animals and fruits and vegetables that they ate. Salt began to be used extensively when its properties associated with food preservation was discovered. Currently, salt intake is as high as 10 mg/day, which is shown to be associated with an increase in blood pressure and risk for cardiovascular disease.

Association with Salt Sensitivity:

In a study, people with the C variant were shown to be associated with higher diastolic blood pressure on high salt intake than people with the T variant.

The Peroxisome Proliferator- Activated Receptor Delta (PPARD) gene is associated with the synthesis of Peroxisome Proliferator- Activated Receptor Delta (PPARD), a protein associated with cell differentiation and lipid metabolism. Variations of this gene are associated with endurance and HDL cholesterol levels upon exercising.

Association with Endurance

In a study conducted on athletes, people with the C variant were associated with endurance. In another similar study, people with the C variantwere found to be associated with better endurance.

Association with HDL levels upon Exercising

In a study on PPARD gene polymorphisms and lipid responses upon exercising, people with the C variant showed a greater increase in HDL-C levels. In a study conducted on 2700 study participants, PPARD gene polymorphisms were shown to be associated with changes in HDL levels upon exercising.

As a consumer of genetic information, it helps to know a few things that only industry insiders would know. Number of genes being investigated: Humans have […]

As a consumer of genetic information, it helps to know a few things that only industry insiders would know.

Number of genes being investigated:

Humans have approximately 26,000 genes that perform various functions in the body. Gene tests range from single gene tests to full genome tests. Obviously the more the number of genes, the more expensive the test is. However, it does not scale linearly, meaning, if one gene is $1, then 10,000 genes is not $10,000. As the number of genes goes up, the price goes up but not one to one. Today, you can expect to pay as low as $20 for one genetic data point to $150 for 500,000 genetic data points. So which one should you chose? Clearly, one should opt for the larger number of data points as it gives you more data to work with for not too much more money.

Technology used:

Not all technologies are the same. Some are more expensive than others. Depending on which technology was used to analyze the genes, the price could differ. But a more expensive technology is not necessarily better. For example, some companies may be using an older and more expensive version of the technology they have been using for the past many years, because they did not want to invest in newer machines. This could also be the cause of higher costs. So find out why the charges are higher.

Lab costs:

Companies differ in various ways various procedures are performed and the certifications they have obtained for their lab. For example, a lab that has secured US certifications such as CAP/CLIA may be more expensive than the one which does not have that certification, because there are more costs involved in securing and maintaining that certification.

Bottom Line: Which test should I go for?

Based on the current technology landscape, for most people, large panel genotyping will be the most value for money. These types of services are offered by 23&me, Ancestry DNA, Xcode Life sciences among others. You can expect to spend about $150 with each of these companies to get the test done. However, the type of reports will differ significantly. For example, 23&me and ancestry focus on ancestry. Whereas, Xcode Life Sciences provides reports that include ancestry, Nutrition, Fitness, Allergy, Skin, Pharmacogenetics, among several others.

Advantage of choosing Xcode

Once you have the genetic data, you need the best interpretation of the genetic results in the most understandable way with practical recommendations. This is what Xcode does best.

Today, Xcode has one the largest collections of gene specific reports in the industry. At Xcode, you could get the genetic test done if you wish to or if you have already done your gene test from 23&me or Ancestry or any other company, simply upload the 23&me raw DNA data or Ancestry DNA raw data and get it interpreted for a small fee. You can chose to only buy reports that you need. Our platform offers the flexibility to store and analyze your data as long as you want. When we release a new report and you wish to buy it, you have to just log into the platform and buy the specific report for a small fee. Our services are one of the best and most price competitive in the industry, globally.

The story of Eman Ahmed, the world’s heaviest woman weighing nearly 500 Kg is now known to most. Her remarkably recovery has given hope to many […]

The story of Eman Ahmed, the world’s heaviest woman weighing nearly 500 Kg is now known to most. Her remarkably recovery has given hope to many that extreme obesity is indeed reversible. However, a factor in weight loss and reversing obesity is find out the root cause. Many weight loss attempts fail because this fundamental step is routinely skipped and instead “standard” advice is given to everyone. A quick search in google and a visit to a few dietitians will tell you that the “basic” weight loss advice is the same – low calories, low carbs, low sugars, low fats etc, with some minor superficial changes to make it appear like it’s different than the others. This is more like a magic trick rather than a real weight loss solution. If you are someone who is overweight and seeking professional help or self-help, be aware that the knowledge and understanding of your body through genetics will help you immensely.

If Eman Ahmed had sought traditional weight loss help, she would have gone nowhere. Because the cause of her obesity is not the traditionally assumed “lack of diet discipline,” her obesity was due to an extremely rare mutation in a gene called the Leptin Receptor gene. Before I explain that gene, let me first explain what Leptin is. Most of us do not suffer from these rare genetic defects, however, we carry genetic mutations, that confer varying degrees of similar effect in our bodies.

Leptin is a hormone in our body. Hormones are key signalling molecules in the body. For example, the hormone testosterone signals the human body to produce male like features and attributes. The hormone estrogen, signals the body to produce more female like features. If you try to inject a female with heavy doses of testosterone, you will see that the female will begin to develop male like features. Every hormone has its functions in the body.

The Leptin hormone is called the satiety or hunger suppression hormone. If the levels of leptin in your blood are high, then you do not feel hungry. If they blood level of leptin is low, then w feel hungry. It’s the hormone that signals to your brain “I am full”- therefore stop eating. If this signalling is not functioning well, then your brain does not get the “I am full” signal and continues to crave food. Leptin hormone is produced by the fat tissue when the fat reserves are running low, as in, when you are hungry, less leptin is produced prompting you to eat more. The brain thus receives the signal that the body is low on energy and more energy needs to be provided. When leptin levels are high, the feeling of hunger is suppressed.

When Leptin levels are low, feeling of hunger is increased and when leptin levels are high, hunger feeling is suppressed.

As in any signal, there has to be the source of the signal (where the signal come from) and the receiver of signal. For example, in your mobile phones, the source is the mobile tower and your phone is the receiver. Communication can be interrupted when there is a problem at either end. Similarly, the person with a leptin receptor mutation, has a problem at the leptin “receivers” in the brain. Even when the body has enough leptin, because the receptors are not receiving this signal, the signal is not captured and the body thinks there is not enough and hence continues to eat. In another instance, the receptors are fully functional but are less sensitive, so it takes more leptin create the same “feel full” effect than it does in other people. In yet another instance, the does not produce this signal in sufficient amounts, a condition known as leptin deficiency. Such patients have been shown to benefit from leptin injections in reversing obesity. Here is another wonderful write up about Leptin and its actions in the human body. As you can see, there are various possibilities in a single hormone mechanism in how you could be different from others. You can imagine how many such variations exist between you and others in hundreds of such hormonal and metabolic pathways. Learning about just a few of these in how you are different from others, will go a long way in helping your weight loss.

The WHO reports that 56 million Indians, approximately 4.5% of the Indian population, suffer from depression at this very moment, while another 38 million Indians suffer […]

The WHO reports that 56 million Indians, approximately 4.5% of the Indian population, suffer from depression at this very moment, while another 38 million Indians suffer from anxiety disorders. Unlike in the West, there is limited talk therapy practiced in India and patients often rely on medications as the only means of therapy. Such patients are often found struggling through extended periods of depression, resorting to trial and error to identify the appropriate anti-depressant.

Sarah Ellis, reported in the NBC News, how she had to battle through depression and use a series of medications in an attempt to find the right one. Ellis details her tryst with depression, made worse by side effects caused by some of the drugs like skin rashes. Other common side effects are nausea, weight gain or difficulty in sleeping. The Food and Drug Administration (FDA) reports that 135,587 adverse drug reactions may be caused due to anti-depressants.

After trying 23 drug combinations, Ellis’ psychiatrist recommended a genetic test to help identify why Ellis was not responding to the prescription drugs and what drugs could be effective. The blooming field of pharmacogenomics, how gene variations are associated with an individual’s response to drugs, is helping patients with depression avoid common side effects. Ellis feels genetic testing was “definitely worth it” A study by Mayo Clinic showed that there was a 70% reduction in symptoms of depression when compared to treatment without genetic testing.

Gene variations in an individual are associated with response to drugs and may make them more susceptible to side effects. An understanding of the variations carried by the individual could help doctors prescribe appropriate medications.

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