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

The team found defects in ISCA1 gene as the likely cause of their disease in four children from two families in the region

April 10, 2017

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 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 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 brain and defective functioning of mitochondria in cells, she added.

Commenting on the discovery Dr. H. Vinod Bhat, Vice chancellor of Manipal Academy of Higher Education lauded the efforts of department of medical genetics in discovering 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 catalogued in Online Mendelian Inheritance in Man (OMIM) following discovery of similar disease from 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. Dean of Kasturba Medical College, Manipal Dr. Poornima Baliga gave the details of major work done by the department in the area of genetic bone disorders and brain disorders in the children. Medical Superintendent of Kasturba Hospital, Manipal, Dr. Col (Retd) M Dayananda said that patient care has improved after the research activities of the department and enabled genetic counseling and prenatal diagnosis for affected families. (http://www.nature.com/jhg/journal/vaop/ncurrent/full/jhg201735a.html)