Doctors Reveal Genomics of People With Hypertrophic Cardiomyopathy

Researchers have embarked on a research which allows them to identify sudden death (hypertrophic cardiomyopathy) in a person who is at risk and test the best possible drug that would reverse the condition in a zebra fish. Hypertrophic cardiomyopathy (HCM), also known as the sudden death syndrome is one of the most common heritable cardiovascular diseases and is the most common cause of sudden death in the young and kids. HCM refers to a malfunction of the heart muscle, it becomes enlarged, thick or rigid. Apart from other types and causes, Cardiomyopathy can be acquired or inherited (due to genetic mutation).

Rare Genetic Disorder on the other hand varies from region to region. Genetic disorders are conditions caused by abnormalities in the genetic material contained within our cells. Genetic disorders may be heritable and passed on from family members or non-heritable and acquired during a person’s lifetime. Acquired genetic disorders refer to conditions caused by acquired mutations or changes in parts of the DNA, if the mutation occurs in the germ line. Early diagnosis is one step through which these disorders can be prevented. A person suffering from cardiac problems, especially with dilated HCM must go for Genetic Analysis test. FLL recently launched an exclusive centre called Cardiovascular Risk in Young Clinic (C-R-Y clinic) for the first time in our country, where family screening can be done with diagnostic test for specific genetic change in a family.

Speaking on early diagnosis prevention for these disorders, Dr Anantharaman, Sr Consultant Cardiologist said, “Any person who is suffering or had suffered from cardiomyopathy or rare genetic disorder, his or her family should come forward and take a test. FLL is the first hospital in the country to offer genetic screening as well as genetic consulting for genetically inherited families, as these families are seen as priority. The clinic will provide evaluation and treatment for people at risk and the families due to genetic pre disposition.”

Genomics and Genetics are the primary underlying cause of complex disorders through which genomic sequence information will reveal other possible ways to comprehend disease manifestation. Due to limitations and demand for fast, most accurate and cost effective DNA sequencing, Next Generation Sequencing (NGS) technologies are developed.

Speaking on the session, Dr. Priya Chockalingam – Cardiologist, said, “Genetics and genomics play an increasingly large role in the practice of medicine. Next generation sequencing (NGS) is perhaps one of the most exciting advances in the field of life sciences and biomedical research in the last decade.. This technology has been used to understand the genetic aspects of various diseases including cardiomyopathies. With ease in handling, cost effectiveness and fast data output, NGS is now considered as a diagnostic tool for cardiomyopathy.”

Despite all the technologies, lack of families suitable for linkage analysis and positional cloning most of the genetic causes of cardiomyopathy and other diseases are still unknown due to. To facilitate rapid identification and validation of HCM and genetic disorders, appropriate animal models are needed.

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Explaining about the extensive use of Zebrafish as model organism Dr. K M Cherian, Chairman and CEO, said, “Till now only two large genomes have been sequenced to high standard: the human genome and the mouse genome. Over the decades, the popularity of the zebrafish model has grown more rapidly than any other vertebrate model, and by now the zebrafish is used for virtually all disciplines of biological and medical research. 80% of human gene is found similar to that of Zebrafish and the gene specific differences can be reliably produced by Zebrafish model.”

Further discussing about Regeneration, Dr. Harapriya, Consultant - Pediatric cardiology, said, “Regeneration, is a complex biological process by which animals can restore the shape, structure and function of body parts lost after injury, or after experimental amputation. Zebrafish is one among the few species that has the capacity to regenerate body parts, especially heart.” She also gave insights about the mechanisms underlying the regeneration process and how Zebrafish model offers new possibilities for various experimental biological phenomenon.

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Source-Medindia