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Rare Nerve Disease Causing Gene Identified

ents must contribute the defective gene to the child, and currently there is neither cure, nor any standard treatment for either of the disease. The incidence is reported to be 1 in 500,000 to 1 million. The researchers explained that now with the discovery of PLA2G6’s, they are hopeful of developing a clinical test that could help the families in determining their chances of passing on the disorders to their children.

Susan Hayflick, professor of molecular and medical genetics, paediatrics and neurology in the Oregon Health and Science School of Medicine, and the study leader Professor said: ‘There are families who literally are waiting to have this test. To have the option of bringing a child into this world you know won't have to suffer like this is extraordinary for a parent who's been through this. Some of them have had multiple children with the disease’.

The researchers also said they had "unequivocally" linked defects in phospholipase A2 proteins with neurodegeneration. Professor Hayflick explained that similar changes in phospholipase A2 metabolism were also seen in neurodegeneration that was associated with ischemia due to stroke, spinal cord trauma, head injury and Alzheimer's disease, thereby making it a potential drug target.

Stating that iron is known to accumulate with age in brain regions attacked by Alzheimer and Parkinson's diseases, she said: ‘This is a common end effect of many neurodegenerative disorders. To the general population [the discovery] has a larger impact’.
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