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| Researchers identify gene causing motor developmental delay | | Mutations in DARS gene responsible for inherited brain disorder, says team | |
In a discovery that would pave way for diagnosis and treatment of children with genetic diseases, a global team of researchers comprising two Delhi doctors has identified the causative gene behind the motor developmental delay in a four-year-old Indian child and nine other children around the globe.
The team comprising I.C. Verma, director of the Centre for Medical Genetics at Sir Ganga Ram Hospital and Monica Juneja of the Department of Paediatrics at the Maulana Azad Medical College, found that mutations in the DARS gene were responsible for causing inherited brain disorder, HBSL (Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity).
Led by Ryan Taft from The University of Queensland, the team used genome sequencing to determine that these children were suffering from a defect in a gene previously not associated with human disease.
“We analysed the genome sequences of this child and his parents using whole genome sequencing and found that a mutation in the DARS gene was likely causing his disorder,” Dr. Taft said, adding that in collaboration with clinicians from India, Canada, the Netherlands, Australia and the U.S., the genomes of nine other children, who appeared to be suffering from the same disease and the genomes of their parents were examined and this confirmed that they all had mutations in the DARS gene.
Dr. Verma said: “This gene has never been previously associated with human disease and may not have been identified as the culprit using any other method.” As for the four-year-old child from India, the team said he was from Punjab and was suffering from motor developmental delay because of which he could not walk or sit without support.
The team has published its findings in the May 2013 edition of The American Journal of Human Genetics. Dr. Verma, who was assisted by Udhaya Kotecha , Ratna Puri, Sunita Bijarnia and Jyotsana Verma, said: “They have named the disease HBSL because it causes Hypomyelination in the brain stem and spinal cord leading to leg spasticity. Hypomyelination occurs when people do not have enough myelin, the substance that coats nerve fibres and enables the transmission of electrical impulses in the nervous system.” Dr. Taft said: “Our goal is to dramatically reduce the number of unresolved paediatric cases of rare genetic disease.”
The discovery assumes significance for, at present between 30 and 40 per cent of patients with intellectual disability go undiagnosed in India. According to the research team, the new techniques will remarkably reduce this number. Discovering the causative gene will help in providing genetic counselling to the family. It will also ensure that they have normal children. |
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