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KMC Manipal doctors discover new genetic disorder

Published On : 12 Apr 2017

Mangaluru: The department of Medical Genetics at Kasturba Medical College, Manipal, led by Dr Girish Katta, has discovered a new genetic disease called ’Multiple Mitochondrial Dysfunction Syndrome’ in four children from two unrelated families in the region.
The children with neurodevelopmental disorder were found to be affected with early onset of neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis and early demise.

The team comprising clinical geneticist Dr Anju Shukla studied two families with severe neurological disease in infancy. All four affected children died early in childhood. DNA from the first family was analysed by exome sequencing, a new technology to study all the genes in one experiment, Dr Shukla explained.The bioinformatics analysis then identified a similarly affected family.

All the four showed a severe white matter disease of brain and defective functioning of mitochondria in cells, she said. Dr H Vinod Bhat, vice chancellor of Manipal University, lauded the efforts of department in discovering genetic basis of human diseases.

The work is now published online in Journal of Human Genetics, published by Nature Publishing Group.

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