Kasturba Medical College, Manipal doctors discover new genetic disease affecting children

Department of medical genetics at Kasturba Medical College, Manipal led by Dr. Girish Katta has discovered a new genetic disease called ‘Multiple mitochondrial dysfunction syndromes’ in four children from two unrelated families in the region. (http://www.nature.com/jhg/journal/vaop/ncurrent/full/jhg201735a.html)

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The children with the 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 found defects in ISCA1 gene as the likely cause of their disease in four children from two families in the region, Dr Girish said. The team comprising clinical geneticist Dr. Anju Shukla studied two families with the severe neurological disease in infancy. All four affected children died early in childhood. DNA from the first family was analyzed 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 children showed a severe white matter disease of the brain and defective functioning of mitochondria in cells, she added.

Commenting on the discovery Dr. H. Vinod Bhat, Vice-chancellor of Manipal University lauded the efforts of the department of medical genetics in discovering the genetic basis of human diseases. The work is now published online in the highly reputed Journal of Human Genetics, published by Nature Publishing Group. Dr. Bhat added that a new bone disease ‘short-rib thoracic dysplasia type 16’ was also identified by the same team and that the work has already been cataloged in Online Mendelian Inheritance in Man (OMIM) following the discovery of similar disease from the United States of America.

Dr. Girish Katta said his team’s contribution to the discovery of genes in the last two years include SFRP4, BGN, EXOC6B, and EBF3.

 

 

 




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