You
will now be able to know if your next generation will suffer from a
heart disease responsible for the organ's failure that affects 1 person
in 2,500 globally a?? a condition known as dilated cardiomyopathy (DCM).
A team of scientists from Icahn School of Medicine at Mount Sinai Hospital, US, Hyderabad, Japan and India have found a new predominant gene responsible for dilated cardiomyopathy in children. With the discovery of this gene, parents can be screened before they plan a child to know about its presence in the progeny. The mutation in RAF1 gene has been found to result in early onset of the disease in children.
"The team sequenced the DNA of a total of 513 DCM patients from south India, north India and Japan and found 1 out of 9 children with DCM to be carrying this mutation," said Prof Madhu Khullar, department of experimental medicine and biotechnology, PGI, whose group collaborated on the project.
The findings have been published in reputed international journal Nature Genetics.
The cause of DCM remains largely unknown. The doctors often emphasise on few known factors to be underlying infection and genetics. "It's the dilation of heart muscles which slows the rate of pumping. The body is unable to get sufficient oxygenated blood and subsequently, it can result in heart failure. There is no treatment for genetic causes," said Dr Rajesh Vijayvergia, cardiologist, PGI.
The researchers found 9% prevalence of RAF1 mutation in childhood-onset DCM patients under study. There is no gene therapy available for DCM. The team has tested rapamycin drug as a potential treatment for RAF1 induced DCM and found it to be effective. "The drug was tested on zebrafish embryos, which have heart similar to the humans, where DCM-associated RAF1 mutants heart defects had been induced. The drug was found to reverse some of the mutation induced effects on the heart in zebra fish," said Prof Khullar. "The next step will be further animal trials for the drug," she said.
The study provides new mechanism for childhood associated DCM which may help in finding new treatment.
A team of scientists from Icahn School of Medicine at Mount Sinai Hospital, US, Hyderabad, Japan and India have found a new predominant gene responsible for dilated cardiomyopathy in children. With the discovery of this gene, parents can be screened before they plan a child to know about its presence in the progeny. The mutation in RAF1 gene has been found to result in early onset of the disease in children.
"The team sequenced the DNA of a total of 513 DCM patients from south India, north India and Japan and found 1 out of 9 children with DCM to be carrying this mutation," said Prof Madhu Khullar, department of experimental medicine and biotechnology, PGI, whose group collaborated on the project.
The findings have been published in reputed international journal Nature Genetics.
The cause of DCM remains largely unknown. The doctors often emphasise on few known factors to be underlying infection and genetics. "It's the dilation of heart muscles which slows the rate of pumping. The body is unable to get sufficient oxygenated blood and subsequently, it can result in heart failure. There is no treatment for genetic causes," said Dr Rajesh Vijayvergia, cardiologist, PGI.
The researchers found 9% prevalence of RAF1 mutation in childhood-onset DCM patients under study. There is no gene therapy available for DCM. The team has tested rapamycin drug as a potential treatment for RAF1 induced DCM and found it to be effective. "The drug was tested on zebrafish embryos, which have heart similar to the humans, where DCM-associated RAF1 mutants heart defects had been induced. The drug was found to reverse some of the mutation induced effects on the heart in zebra fish," said Prof Khullar. "The next step will be further animal trials for the drug," she said.
The study provides new mechanism for childhood associated DCM which may help in finding new treatment.
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