Gene responsible for inherited brain disorder has been identified

A global team of 16 researchers, including doctors from two city hospitals, has identified the gene that causes an inherited brain disorder leading to delayed development of parts of nervous system.

The DARS gene was diagnosed during treatment of a four-year-old boy , along with nine other children from around the globe simultaneously.

DARS causes hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), an inherited brain disorder which leads to delayed development of parts of nervous system due to which patient becomes unable to sit and walk without support.

A Dr. explained that disease occurred due to hypomyelination in the brain stem and spinal cord.

This occurs when individuals do not have enough 'myelin', the substance that coats nerve fibres and enables the transmission of electrical impulses in the nervous system, hence leading to delayed response of nervous system.


Another researcher said they analysed genome sequences of the child  and his parents using 'whole genome sequencing' method, and found that a mutation in the DARS gene was likely cause of the disorder.

In collaboration with clinicians from India, Canada, Netherlands, Australia and the US,they then examined genomes of nine other children who appeared to be suffering from the same disease and the genomes of their parents and confirmed that they all had mutations in the DARS gene.

One of the child was suffering from motor developmental delay, and could not sit and walk without support.