Scientists with the Indian Institute of Science (IISc) and the National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, have discovered a key gene behind microcephaly, a brain disorder.
Their findings have been published in the International Journal of Human Genetics. While Arun Kumar of the Department of Molecular Reproduction, Development and Genetics, IISc, is the lead author of the paper, Satish C Girimaji of the Department of Psychiatry, NIMHANS is a co-author.
The discovery may help develop a regular clinical screening tool to detect this severe disorder at the foetal stage itself, it is hoped.
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation.
Typically, the brain of a microcephaly patient weighs 430 gm, whereas that of a normal person is 1,459 gm. Because of a smaller brain, the intelligent quotient for microcephaly patients ranges from mild (IQ 50-70) to severely (IQ 20-35) low. Though it is not fatal, patients remain mentally-challenged throughout their lives. Interestingly, a large number of microcephaly patients are found in Pakistan where they are dubbed rat people, apparently because of their small brain.
Till now only four genes were known to cause this disease, which is hereditary. Now a fifth gene has been located.
ASPM (one of the four already known genes) and STIL are important for Indian microcephaly patients, IISc geneticist Arun Kumar told
Deccan Herald.
Another gene, MCPH2, has been also found in a handful of Indian patients but other three genes have never been reported from India.