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Rare Nerve Disease Causing Gene Identified

The Researchers from UK and US working together explained that they have identified the gene that was behind a group of rare, progressive childhood //disorders caused by an abnormal build up of iron in the brain.

Explaining about the discovery of the PLA2G6 gene, whose mutated forms trigger several genetic disorders categorized as neuroaxonal dystrophies, they said that this could also shed light on the nerve cell degeneration that leads to neurological problems such as Parkinson's and Alzheimer's diseases, both known to be associated with brain iron accumulation.

The study in Nature Genetics has found a defect in phospholipases; a specific group of proteins was responsible. The researchers conducted the studies on the families hat were affected by two of the genetic disorders infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation. (NBIA)

They explained that both the disorders are characterised by an abnormal build-up of iron in the brain, which causes the branch-like axons that transmit electrical impulses in nerve cells to swell, thereby interrupting the signal. They said that this causes the affected children to suffer from progressive loss of vision.

The researchers collected DNA from 30 to 40 families and narrowed the search for the suspect gene to chromosome 22. Then searching for genes in the region whose function was suggestive of the symptoms and the parts of the body affected by the diseases, they narrowed the search further to 75 genes.

After combing the 75 genes patiently, they identified the mutations in PLA2G6, which codes for a protein belonging to a group called phospholipase A2. They explained that when the gene is mutated it alters the processes inside a cell that leads to the build up of iron, which incidentally is also seen in conditions like Alzheimer's and Parkinson's.

Both these diseases are due to recessive traits, meaning that both par
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