Manipal doctors discover new genetic disease

Manipal, April 10, 2017: 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 teamfound defects in ISCA1 gene as the likely cause of their disease in fourchildren from two families in the region, Dr Girish said. The team comprisingclinical geneticist Dr. Anju Shukla studied two families with severeneurological disease in infancy. All four affected children died early inchildhood. DNA from the first family was analyzed by exome sequencing, a newtechnology to study all the genes in one experiment, Dr. Shukla explained. Thebioinformatics analysis then identified a similarly affected family. All the fourchildren showed a severe white matter disease of brain and defectivefunctioning of mitochondria in cells, she added.

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

Dr. GirishKatta said his team’s contribution to the discovery of genes in the last twoyears include SFRP4, BGN, EXOC6B, and EBF3. Dean of Kasturba Medical College,Manipal Dr. Poornima  Baliga gave the details of major work done by thedepartment in the area of genetic bone disorders and brain disorders in the children.Medical Superintendent of Kasturba Hospital, Manipal, Dr. Col (Retd) MDayananda said that patient care has improved after the research activities ofthe department and enabled genetic counseling and prenatal diagnosis foraffected families.

(http://www.nature.com/jhg/journal/vaop/ncurrent/full/jhg201735a.html)


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