The Hindu : Andhra Pradesh / Hyderabad News : CCMB scientists find new genetic mutations

Online edition of India's National Newspaper
Monday, Feb 12, 2007
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Andhra Pradesh

Andhra Pradesh - Hyderabad

CCMB scientists find new genetic mutations

Y. Mallikarjun

Variations in mitochondrial DNA can lead to neurological disorders, male infertility

HYDERABAD: Novel genetic mutations associated with certain neuro-generative disorders, cardio-myopathies and male infertility have been found in Indian population by scientists of the Centre for Cellular and Molecular Biology (CCMB) in studies conducted in collaboration with other medical institutions.

The mutations have been found in mitochondrial DNA which is inherited from the mother, unlike the chromosomal DNA, inherited from both the parents. Mitochondrion plays an important role in cellular energy metabolism. In the past decade, genetic variations in mitochondrial DNA have been linked with various disorders, particularly neurological.

Senior scientist of CCMB Kumaraswamy Thangaraj, who led the research teams, told The Hindu that they had begun studying the molecular basis of mitochondrial disorders in the population a couple of years ago. They focussed on neuro-muscular diseases, cardiomyopathy, male infertility and recurrent pregnancy loss and analysed hundreds of samples in each category.

The studies showed new genetic variations associated with neuro-generative disorders like MELAS (Mitochondrial encephalopathy lactic acidosis stroke-like episodes) and Leigh, cardiomyopathies and male infertility. Dr. Thangaraj said most of the mutations found in the Western were not found here. "Since Indians have a unique origin, the genetic variations will be different," he added. CCMB scientists are analysing samples to identify specific sets of mutations associated with mitochondrial disorders for early diagnosis. Regarding genetic causes for male infertility, he said the problem of low sperm motility was looked into to understand the involvement of mitochondrial DNA. C11994T mutation in ND4 gene of mitochondria was found to be associated with low motility, he added.

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