Genetics in heart disease treatment and diagnosis



We are in the age of genomics. It is now possible to have our genome checked for predisposition to genetically-linked diseases such as cancer, Alzheimer’s, and yes – cardiovascular disease.

According to a review paper in 2005:

Genetic studies provide new insights into the pathogenesis of coronary artery disease and myocardial infarction. Future studies will focus on identification of new disease-causing genes and susceptibility genes, exploration of the molecular mechanisms by which mutations cause coronary artery disease/myocardiaI infarction, and gene-specific therapies for patients.”

It’s been three years. Are we ready yet for genetic-based treatment of heart disease? Let’s take a look at what the latest research on genetics say.

First gene therapy on trial

The first clinical trial of gene therapy for the treatment of heart failure was launched earlier this year.

Gene therapy is a technique for correcting defective genes responsible for disease development by inserting genes into a patient’s cells and tissues. In most gene therapy studies, a “normal” gene is inserted into the genome to replace an “abnormal” disease-causing gene.

In this therapy developed by researchers at the New York-Presbyterian Hospital and Columbia University Medical Center, the gene SERCA2a is injected into the patient with the hope that gene facilitates the replenishment of enzymes necessary for efficient heart pumping. In patients with heart failure, SERCA2a is depressed, leading to insufficient pumping of the heart and eventually heart failure.

Genetic fingerprinting for cardiomyopathy

Dilated cardiomyopathy is a condition where the heart is abnormally large so that the heart cavity is enlarged and stretched. This weakens the heart, making pumping inefficient and can eventually lead to heart failure. 36% of all cases of dilated cardiomyopathy is due to excessive alcohol consumption. However, distinction between alcohol-induced and non-alcohol induced cardiomyopathy is not an easy task. Because denial is one of the most common symptoms of alcoholism, self-reported evaluations are not reliable sources of data for prevention, diagnosis and control.

Researchers at the Boston University School of Medicine may just have found the answer. They report that they identified the “genomic ‘fingerprint’ for alcohol-induced heart failure.”

According to the authors,

now that we have this diagnostic marker or fingerprint, clinicians will be better able to monitor the progress of a patient who is being treated either medically or simply self reporting a cessation of drinking.”

Genetic markers for heart disease

In recent years, the search for genetic markers for human diseases has been stepped especially in the fields of oncology, neurodegenerative disorders, and cardiovascular medicine. Recent studies report about promising candidate genes that are strongly linked to the development of coronary heart disease and heart attack. However, these techniques are mainly experimental and still not part of standard clinical practices to diagnose and treat cardiovascular disorders.

How much more time do we need till we get there? It’s hard to say. It seems that medical science is making progress but progress is not that fast. Let’s touch base again in a couple of years.

Photo credit: DNA by clix at stock.xchng

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NOTE: The contents in this blog are for informational purposes only, and should not be construed as medical advice, diagnosis, treatment or a substitute for professional care. Always seek the advice of your physician or other qualified health professional before making changes to any existing treatment or program. Some of the information presented in this blog may already be out of date.
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