How to Live with Genetic Problems?

A recent study suggests people with certain genetic problems can try to adjust their lifestyle accordingly and live as a healthy life as possible.

Researchers from the University of Leicester found that more than one in seven people (14%) have a gene problem that potentially could lead to future health problems or conditions, such as heart disease, diabetes, obesity, and high cholesterol.

The most common ‘problem’ genes are BRCA1/BRCA2 – breast cancer susceptibility gene; FTO – body fat mass regulator gene; MTHFR 677T/1298C – homocysteine metabolism; ACE DD and APOE 4 – blood lipid levels.

Here we look at how you can assess your risks and whether you should be concerned.

What is a gene?

A gene passes down from parent to child and determines-

• How we look,
• How our body works, and
• Even certain personality traits.

The Human Genome Project marked the beginning of the study of genes as scientists found that we all have around 25,000 genes on 23 pairs of chromosomes in each cell in our bodies. The task was so big it took 13 years to map them all out!

Genes can be damaged due to external factors like environmental toxins or smoking (which causes DNA damage in cells) or simply by aging processes, causing slight changes called ‘mutations’. These changes are usually not harmful but they can play a role if you develop certain diseases later in life.

How are genes tested for health risks?

Genes can be put through testing to see if they have any risk factors. This is because some conditions such as Huntington’s disease (a brain condition that leads to uncontrolled movements), Cystic fibrosis (a lung condition) and sickle cell anemia (where red blood cells become crescent-shaped) are because of specific gene faults.

Testing can tell you if there is a risk of you passing on these diseases to your children, or in the case of Huntington’s disease, whether you are likely to develop it yourself at an early age.

Alternatively, a genetic counselor will talk through your family history with you and recommend tests accordingly.

For example, if your mother and sister have developed diabetes you will be advised to ask for a glucose tolerance test, which tests your blood sugar levels. If your results show that you have the highest risk of getting diabetes you may be prescribed medication or put on a controlled diet to keep this at bay.

On average, genetic testing costs around $500 (£304) but it can go up if a complicated analysis involves. It’s also worth checking with your insurance company as it might just cover the cost for you.

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How do genes cause problems?

Genes are responsible for creating proteins (the building blocks of life), which creates enzymes and hormones – like insulin, hormones and collagen, all key parts of our body processes and contributing to how our body functions and looks.

Genes can be faulty for a number of reasons and these are usually down to the environment we live in, such as exposure to radiation or chemicals, high blood pressure or diabetes. This means that genetic problems are often also linkeds with lifestyle issues too.

How do certain genes affect our health?

BRCA1/BRCA2 breast cancer susceptibility gene: Women who carry these genes have an increased risk of developing ovarian and breast cancer (the most common types). If you have been diagnosed with breast cancer at a young age there is a one in four chance it will be hereditary. It’s thought that 5% of all women could carry this gene fault, compared to 10-15% of those with a family history of breast cancer.

The gene is also responsible for causing male breast cancer, but this is much less common. In males the gene causes them to have an increased risk of developing prostate and bowel cancers too.

FTO body fat mass regulator:

This gene regulates our metabolism – how quickly or slowly we burn calories and stored energy from food. It’s linked with obesity and excess weight gain even in normal-weight people, which can increase your risk of diabetes, heart disease or stroke. It has now been associated with a big way to certain mental health disorders such as schizophrenia too. Research shows that it affects up to 70% of us genetically!

MTHFR 677T/1298C gene:

If you have this gene you may be prone to higher levels of homocysteine, a chemical produced in the body during protein breakdown. They’re linked with inflammation, heart disease and stroke and can interact with drugs and alcohol, causing side effects.

P53 genes (not all p53 genes are bad!):

These genes control proteins that stop cell growth if damaged or out of order. Damage or faults cause them not to function properly which means it is harder for cells to repair themselves and cancer risk increases as a result. The most notable ‘bad’ versions are found in skin cancers like melanoma but there are other forms too including thyroid cancer.

APOE 4 gene:

This is a cholesterol transport system gene and it affects how well our cholesterol is taken up by the liver. It’s associated with an increased risk of heart attacks, strokes, and Alzheimer’s disease (AD) in a big way.

The APOE gene has three different versions: E2, E3 and E4. It’s thought that around 25% of us have at least one copy of gene E4. The more copies you have the higher your chances are of developing AD or cognitive decline earlier in life (around 50-60 years old).

How common are bad genes?

In some cases the presence of a bad gene can be down to chance. This is why genetics isn’t an exact science shows there is still so much we don’t understand about how they work.

For example, out of the 1,000 people offered BRCA1 genetic test, around 600 to 700 will be carriers . The rest are free of the disease-causing gene. Unfortunately most women in this group won’t go on to develop breast cancer because they have another form of protection such as regular mammograms or other genes that help regulate cell growth.

In other cases there’s a stronger family history which can help you predict the chances with more certainty. If your mother has had breast cancer you have a 3% chance of carrying BRCA1 and 6% for BRCA2 instead of between 0.5%-3% depending on your ethnicity. Having a brother, a sister or both with the illness also ups your risk.

Non-carriers can still be affected by inherited conditions too. For example, studies have shown that those who carry excess weight around their middle are much more likely to develop type 2 diabetes than normal weight people without the gene. This is because there is strong genetic evidence linking excess fat in this area with reduced glucose tolerance and insulin sensitivity even if you aren’t carrying a faulty version of APOE4 for dementia. The same goes for heart disease risk too which has been proven to increase alongside waist size whether it’s caused by genes or lifestyle (being obese increases heart disease risk by 74%!).

How do genes affect bad habits?

Genetic inheritance as I’ve explained above also affects how bad habits impact your health. Some genes can help you recover quicker, others make it more likely that you develop an addiction or keep a habit going even when the body says NO!

For example, there’s some evidence to suggest that alcohol and drug addictions are at least partly down to genetics. The DRD2 gene plays a key role here – if you have certain versions of this ‘reward gene’ then you’re 55% more likely to take drugs or alcohol with the aim of getting high.

In other cases, smoking can be triggered by certain versions of nicotine receptors in the brain which control pleasure and reward centers. It’s thought that between 25%-50% of smokers have a variation in the gene which makes them more susceptible to smoking despite side effects

In some cases, the body reacts differently whether you’re carrying a bad gene or not. This can either make certain addiction-causing habits start earlier, end sooner or simply be more likely to get hooked in the first place! For example, research has shown that those with low levels of dopamine are more likely to smoke tobacco. That means it’s actually easier for you to get hooked if you aren’t equipped with enough dopamine receptors from birth.

To sum up: while genes control everything from how many brain cells we have and how well they work to our general tolerance towards risk and stress, it’s how we interact with them that determines whether they make us healthier or sicker. In some cases, you will be born with a bad gene, but if you put yourself in a situation where it’s likely to develop then chances are you will, too.

How to live normally with genetic problems?

The big question: is there a way to live normally with genetic problems? Are there any good examples of people who have overcome difficult inheritance?

In many cases, yes. For example, someone with diabetes or heart disease can still go on to lead an active lifestyle and stay in great shape if they are willing to take the right precautions. There’s even some evidence that strength training (weight lifting or bodybuilding) can help our hearts cope better with stress according to a study by the University of Missouri. Other research shows that regular exercise reduces the risk of insulin resistance getting worse and therefore cutting your life short.

Remember: genes aren’t fate. While we’re born a certain way which makes us more susceptible to certain conditions, there are many things we can do to minimize the harm they cause including:

1. Keeping fit and healthy

While fitness won’t fix your genes, it will make it less likely that you’ll get sick in the first place. This is because exercise reduces stress on the body, maintains muscle mass and optimizes your hormone levels which together lowers heart disease risk as well as obesity-related illnesses. Even small workouts have been proven to be effective – a study of 12 people with high blood pressure found that just 20 minutes of exercise three times a week for six months reduced their blood pressure back down to normal.

2. Managing bad habits

Again while this won’t fix the underlying issues, it can help you avoid developing an addiction and minimize the damage. For example, those with a family history of alcoholism might have lower levels of natural alpha-receptors in their brain or less dopamine. This makes them more susceptible to addictive behaviors like taking drugs or drinking alcohol. By keeping your body healthy, getting enough exercise, and not going over your daily calorie intake, you limit how much damage these bad habits can do.

3. Minimising risks

If there is any way you can avoid putting yourself at risk for conditions that are triggered by genes then it’s a good idea to do so! If your cholesterol is affected by certain genetic variations (like having low LDL receptors), then you’ll want to avoid a diet high in fat and cholesterol. It’s not the end of the world if you can’t, but there are some things which we can change for ourselves that will make our lives easier.

For example, I have low LDL receptors (the amount of cholesterol absorbed by my body) because of genetics – and so I don’t eat eggs or dairy sometimes as they contain more than double the amount of cholesterol found in meat. This doesn’t mean giving up good sources of protein like chicken or beef completely though! I’ve just learned to sprinkle them with salad instead of eating it alongside something fatty like cheese or sauces.

4. Minimising risks through behaviour

In addition to genes, your environment also plays a big role in how healthy you are. For example, the ozone layer is depleting so that we’re being exposed to more dangerous UV rays. When we were young this was fine because our skin protected us from most of it! But now with wrinkles and thinning skin, things aren’t so simple – which means getting a good sunscreen is even more important .

Our food supply is also at risk because nutrient deficiencies due to poor farming practices (such as using pesticides) will impair our bodies’ ability to function properly long-term. This can cause weight gain and even put an extra burden on our heart when needed nutrients aren’t processed correctly. Organic foods provide a way to avoid this while also improving our general wellbeing.

The Final words

Other risk factors we can control are pollution and stress – both of which are linked to genetics. For example, the ‘Warrior gene’ is linked to a higher chance of developing Post Traumatic Stress Disorder (PTSD) as well as aggressive behavior. When faced with stressful situations in life like my friend was, you can choose how to react – even if there’s still biological predisposition.

Since genes aren’t the whole story, why not accept that things could have been worse for you? No one knows what will happen next so be grateful for what you have now! We’re all human and it’s easy to feel weak because your body doesn’t always behave the way you want it to – but there’s also nothing wrong with strength. I know many of my patients are proud of what they overcame, and I’m sure you will be too!

You can consult me about your genetic issues- Consult with Vaidya Pardeep