Neurology and pharmacogenetics

Pharmacogenetic analysis for Neurology/Psychiatry


Adverse Drug Reaction (ADR) is one of the most common causes of deaths worldwide. It also causes 50 deaths out of 1000 patients in India. These statistics highlight the importance of correct drugs for the treatment. This is where Pharmacogenetics plays an important role.

What is pharmacogenetics?

Pharmacogenetics is the study of inherited genetic differences in drug metabolism which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.

Why pharmacogenetics?

In a last few years, importance of pharmacogenetics has increased tremendously in medical practice. This testing particularly benefits psychiatric patients as the drugs and medications suggested in the treatments can lead to variety of side-effects. The use of pharmacogenetic screening can help the expert to design psychotropic treatments and make informed decisions which prove to be very useful most of the times.

Many cases and studies have been published in recent times which prove the positive results in the patients. Along with the better outcome, genetic testing also helps to decrease the medical costs. Recently, many studies have been published demonstrating improved patient outcomes and decreased healthcare costs for psychiatric patients who utilize genetic testing.

The very first genotyping test used in psychiatry was Roche’s AmpliChip CYP450 test. It received clearance from FDA in December 2004.

The risk of adverse drug reaction is more in children and adolescents who have metabolic disorders as their system finds it hard to break down the new elements in it.

Pharmacogenetics is important in neurology / psychiatrics because –

  • It gives an insight of patient’s metabolic response
  • Prescribes surer, safer and targeted drug therapy
  • Promotes avoidance of Over-dose/ Under-dose
  • Minimizes Adverse Drug Reaction (ADR)
  • Eliminates trial and error in therapy
  • Offers optimum therapeutic response
  • It’s an affordable and once in a life-time test
  • It protects doctor from medico-legal complications

It is a common belief that high-end medical tests only prescribe equally high-end and expensive treatments. However, it is not the case; pharmacogenetic screening identifies the most effective course of conventional treatments and also suggests equally effective alternate options.

The widespread application and utility of pharmacogenetics in neurology/ psychiatry will only keep increasing along with its knowledge and understanding. With continuous research, it is very vital that medications and drugs will get more narrowed down on the basis of their effectiveness to the patients.

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Legs and pelvis are affected first in Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy and Genetics


When Ranjeetha and Rakesh were preparing Anish, their 3 year old for pre-school, they observed that he had difficulty walking and sitting up. They took a primary treatment from their family doctor but as the problem persisted over the year, they were worried and decided to take him to the specialist and Anish was diagnosed with Duchenna Muscular Deficiency (DMD). They were heartbroken with the thought that Anish would have to spend the rest of his life bedridden, or on a wheelchair – totally dependent on others. But very little they knew that their genes were responsible for his condition.

What is DMD?    

Duchenne Muscular Dystrophy is a disorder caused by inherited mutations in genes. It affects protein in Dystrophin (muscle fibres) and causes progressive muscle weakness because of the breakdown and loss of muscle cells. There are around 20 types of muscular dystrophies, but Duchenne type affects only boys, and in rarest of the rare conditions – some girls. The problem here is, the disease is not diagnosed in the infancy, but around the time when child is around 3-5 years of age.  It is named after gentleman from Paris named Dr Duchenne de Boulogne who worked on DMD for the first time in 19th Century.  Even though inherited faulty genes are linked to this gender-specific disease, it can also affect girls in some rare cases through some mutations.

Curvature in spine due to DMD
Curvature in spine due to DMD

Symptoms

It starts with increasing muscle weakness of pelvis and the area below along with a loss of muscle mass. Slowly the weakness spreads to the other parts of the body. In the initial stage, the symptoms include enlarged calf muscles, low endurance, and difficulty in standing & climbing stairs without any help.

In the later stage, muscle tissue gets replaced by fat and tissues caused by wastage. By age of around 10, the patient requires help for walking and fully dependent by the age of 12-13 years. After that, bones develop abnormally and spine curves in an abnormal manner. Eventually it leads to paralysis. It also affects the intellect of the patient but that is not confirmed.

Inheritance of DMD
Inheritance of DMD

Role of genes

This disorder is caused by an X-linked gene. Here, the carriers of mutated genes are mostly mothers. However, in most of the recent cases, it is observed that gene mutation occurs in the boy himself rather than mother being the carrier. In more than 50 percent of the cases the mother is the carrier of the mutated genes. Son and daughter of the carrier have 1:1 chance of being affected by the mutated genes, but the number of affected girls is very less.

Once a boy in the family has been diagnosed with DMD, it is advised to undergo genetic screening for the other members of the family who may be at a risk of being carriers. At DGL, we have ‘Genetic Testing for Duchenne Muscular Dystrophy which identifies the risk of the disorder and also detects the level of mutations. It helps parents of the affected children to take necessary measures.

The average life expectancy for patients afflicted with DMD is around 25, but this varies from person to person. It’s a disease that affects 1 in about 4000 baby boys. The course of treatment changes according to the stage of the disease. Though there are medications available, physiotherapy plays a major role in comforting the patient and improving their life quality.

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Bad lifestyle choices can lead to cancer

9 New-age lifestyle habits that can increase your risk of cancer


Sure we have all have a certain pace to follow in today’s world without which we can be left behind. We all have to run in the race and make sure we are the winners. However, while following our passion and working hard to make our dreams come true, we often neglect our health. We do not care about our food, exercise, or healthy habits. This leads to various health disorders and one of the scariest threat is that of cancer. Though we do not do it intentionally, these habits affect our health.

Here are some habits that you should avoid –
1. Processed foods

Diet plays a very important role in our overall well-being – physical as well as mental. Nowadays processed food is in and we find it easier to stock our refrigerators with ready-to-cook meals and microwave it just before leaving for work. Charcoaled grilled food is also a trend these days. But the compounds in charred foods are supposed to help the occurrence of breast cancer in women.

Overly processed food
Image credits- teensonline.co.za

2. Sodas and energy drinks

All of us think that no sugar = no health problems; and happily sip on diet coke. However, it’s not just about the sugar. The artificial colours in many sodas are connected to cancer. It is also the case with artificial sweeteners. This is called caramel colouring and it is found in many drinks and processed snacks items. These drinks have high glycemic index and increase the risk of endometrial cancer.

3. Overeating

With so many outlets nearby and food-ordering being so convenient at a tap of our fingers, overeating is bound to happen. It also means no proper intervals between the meals. Overeating leads to obesity and obesity is linked to many types of cancers like colon, breast (postmenopausal), endometrium kidney and esophagus.

4. Cellphones

Radiations from cell phone are dangerous and can lead to cancer. So it’s advised that SAR (Specific Absorption Rate) of the phone should be checked while buying a new phone. It measures the radiofrequency energy absorbed by the body from the cell phone. You need to be more careful when you are in an area with weak signals, because phones work harder to search a signal and thus, emit more radiation.

Mobile radiation and cancer
Image credits- completehealthnews.com

5. Sitting too much

All of us spend a major portion of our day sitting at our computer screens. It not just leads to jammed muscles and body pain, but also increases the risk of cancer. With the urban lifestyle, there’s very less or almost zero physical activity. Thus, it’s advised to do some physical activity at least once a day. It lowers the risk of colorectal, postmenopausal breast, and endometrial cancers.

 6. Working in night shifts

A study has found out that women who have worked at night shifts for more than 30 years have doubled risk of getting a breast cancer as compared to those who haven’t. It is because of the melatonin suppression at night. However, there are other factors too; disturbed sleep, lack of vitamin D, upset body clock, to name a few.

7. Alcohol

This is a no-brainer. Everyone knows the side-effects and after-effects of alcohol. Though occasionally indulging in some drinks is not a problem; making it a habit and having it every day definitely leads to cancer. When alcohol metabolism happens, it produces a carcinogen in the body and increases the risk for breast, mouth, pharynx, liver, and colorectal cancer.

8. Over-exposure to sunlight

Harmful UV rays from sunlight can increase the risk of melanoma skin cancer. The rates of skin cancer have gone up in a last few decades and it can be attributed to the choice of clothing as well as casual amount of sunbathing as a recreational activity.

Sun rays and skin cancer risk
Image credits – newgenskin.ie

9. Oral sex

It was quite a shock for everyone when Hollywood actor & producer said that he had got throat cancer because of excessive amount of oral sex. However, it is scientifically proven that oropharyngeal cancer is caused by HPV infection acquired from oral to genital contact. Thus, it’s always advised to be careful while engaging in such sexual behavior.

Above are some of the habits on which you should keep a check on to lead a healthy life. Because it’s rightly said- prevention is always better than cure. And if there’s any doubt you should always get tested for your risk factors so you can take preventive measures.

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Pancreatic Cancer and genetics


Among the other lesser known types of cancers is pancreatic cancer. It is found in 1 per 100,000 people every year as opposed to the 80 cases per 100,000 people diagnosed by breast cancer which is one the most common cancer types in women.

Out of 232,000 people diagnosed with pancreatic cancer in 2002, 227,000 died by 2010, around the world. It is a fast growing and aggressive disease in which the death occurs within five years of the disease diagnosis.

Compared to the West, pancreatic cancer is less common in India, however, in the last couple of years, the rate of cancer cases has gone up. Almost all the cases diagnosed are in the last stage and chances of survival are zero. This cancer is usually found in old-age people.

Image credits -diseasesdata.com
Image credits -diseasesdata.com

Symptoms

By the time cancer is large, it is already grown outside the pancreas and then the symptoms start showing Cancer tumor is generally located on the head of pancreas – an organ that breaks down the food. So the cancer at the head causes symptoms such as jaundice, weight loss, itching, nausea,vomiting, dark urine, back pain, and abdominal pain. Pancreatic cancer in the tail or body of the pancreas generally causes belly and/or back pain and weight loss. Usually, cancers in head of the pancreas show symptoms earlier than the cancers in body or tail.

Pancreatic cancers are of two types – adenocarcinoma and neuroendocrine tumor. Steve Jobs was affected by neuroendocrine tumor – a rare form that is reported in just 5% of people diagnosed with pancreatic cancer.

Pancreatic cancer is diagnosed at a later stage in 89-90 percent cases and in such cases the patient can survive only for18-24 months.

Genetic causes of pancreatic cancer

Inheritance of cancer is one of the causes of pancreatic cancer. Inherited gene mutations are generally passed from parent to child. These mutated genes cause around 10% of pancreatic cancers along with other cancers. Familial pancreatitis is caused by mutations in the gene PRSS1. These mutations and risk factors can be identified using genetic testings like Hereditary Cancer Screening.

DNA mutations in cancer genes often occur after you are born. Most of these cancer causing mutations are after birth rather than being inherited. These acquired mutations sometimes result from exposure to cancer-causing chemicals. E.g. those found in tobacco smoke.

The risk factors like changes in the genes that cause cancer causing syndromes can be recognised by genetic testing.

Surgery, chemotherapy, radiation, and anticancer drugs are some of the treatments for pancreatic cancer that may increase the lifespan of the patients.

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Risk factors of Melanoma Skin Cancer


Among many other types of cancer, skin cancer- and melanoma in particular is highly ignored type of cancer in India. Though it is as fatal as other cancers, very less is known and researched about it. The symptoms are very hard to find and thus, treatment further takes a longer time and it gets out of control. However, it is very important to know the risk factors of the disease. Let us take a look-

  1. Ultraviolet light exposure

UV rays exposure is considered as the major risk factor for melanomas. Exposure to harsh sunlight for a long time results in UV ray exposure. Even though UV rays are a very small part of sunrays, they damage the skin cells. When the damage affects the DNA of genes, they cause skin cancer.  Though not popular in India, sun lamps and tanning beds used for artificial tanned skin are also the sources of UV rays.

When there are frequent sunburns in an early age, it results into development of melanoma on chest and back.

Image credits - tipperarytinting
Image credits – tipperarytinting
  1. Weakened immune system

Healthy immune system is very important in fighting any diseases and overall well-being. However, people with weak immune systems because of certain diseases or treatments have increased risk of developing many cancers, like melanoma.

For example, when patients get an organ transplants, they are usually given medicines that help prevent them from rejecting the new organ. Those medicines weaken their immune system that increases their risk of developing melanoma. People infected with HIV also have an increased risk for melanoma.

  1. Family history of melanoma and genetic factor

If any of your close relative (first-degree) has suffered from melanoma, your risk of getting it is higher than the general population. Close relatives include – parent, siblings, or child. Almost 10% have a family history of melanoma out of all the cases of the disease. This can happen due to the common lifestyle shared among the family members or specific genetic mutations among the family line or combination of both the factors.

  1. Personal history of skin cancers or recurrence

Recurrence of melanoma affects about 5% of the total melanoma patients. It is possible than it occurs again after the first one has been treated. The people who earlier had other types of skin cancer also have an increased risk of melanoma.

Image credits – ascenddermatology.com
  1. Moles

A mole is a pigmented tumor. Babies are not usually born with moles; they often begin to appear in children and young adults. Most moles will never cause any problems, but a person who has many moles is more likely to develop melanoma.

Atypical moles (Dysplastic nevi) look a little like normal moles but also have a few characteristics of melanoma. They are usually bigger than the other moles and have abnormal size and/or shape. Dysplastic nevi is hereditery. Most dysplastic nevi never become cancer. People with above condition have highest risk of melanoma so it’s recommended that they go through regular skin check-ups.

Sometimes, congenital nevi are removed through surgery so the chance of those becoming cancer minimizes.

  1. Age factor

Older people are more likely to get melanoma; though it is also found among younger generation. It is one of the commonest cancers found in patients younger than 30 years of age. Usually, the hereditary melanoma occurs at an early age.

  1. Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare condition that destroys ability of skin cells to repair their damaged DNA. It is inherited. People with this condition have a greater risk of developing melanoma and other skin cancers when they are young, especially on sun-exposed areas of their skin.

Preventive tests like Hereditary screening panel can help to detect the risks of melanoma.

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