News of World Medicine

Scientists have found mutations associated with a rare neurological disorder

Scientists of Brown’s University have revealed that the disease, detected at the brothers and sisters of two families in Pakistan and Oman, is associated with changes in GPT2 gene. It encodes an enzyme which plays an important role in mitochondria - "power plants" of cells. The study was started over 5 years ago, NDTV reports.

The study involved 14 children from 2 large families. The lack of brain growth after birth, as well as intellectual and progressive movement disorder were recorded. By the third year, the children were able to walk, but they lost this skill, progressively (developed spastic paraplegia). In the participants, the scientists have recorded some alterations in the 16th chromosome.

The scientists have managed to identify two mutations in GPT2 gene. The scientists conducted studies in human cells and mice. The development process of the nervous system was also disturbed in rodents with mutations in GPT2. In addition the mutations reduced the enzyme activity associated with GPT2.

Source: MEDdaily