07:39am Sunday 17 November 2019

Gene defect for degenerative disease discoved at Concord Hospital

The disease is manifest almost exclusively in men but inherited through their mothers as carriers, a pattern that arises because the disorder is linked to a gene on the X chromosome.

Affected men cannot run properly and show loss of strength in the hands and feet becoming increasingly disabled through later life. The gene defect causes a slow, but progressive degeneration of the ends of the long motor neurones which drive the limb muscles.

The research was carried out by studying patients with this disease which has similarities with disorders like Charcot-Marie-Tooth neuropathy. While the study was led by the ANZAC Institute’s group of Professor Garth Nicholson and Dr Marina Kennerson, the work also involved collaboration with research groups in Australia, Brazil, the USA, Switzerland and Belgium.

The discovery of the gene causing this disorder produced a big surprise because it turned out to be the same gene responsible for a completely different disease, a severe, infantile
multisystem disorder of copper metabolism called Menkes (kinky hair) disease.

The researchers believe the gene abnormality they have discovered causes disease by impairing the body’s ability to control copper levels and this leads to damage in the ends of extremely long motor neurone cells.

This discovery raises the potential that treatments for this disease may eventually be found.
The discovery was published in the most recent edition of the American Journal of Human

The research group is based at Concord Hospital and is run by Dr. M. Kennerson in

association with Professor G. Nicholson, at the ANZAC Institute. The research has been
supported by grants from the National Health and Medical Research Council and the Motor Neuron Disease Research Institute of Australia.

Media inquiries: Sarah Stock 0419 278 715, sarah.stock@sydney.edu.au.

Share on:

MORE FROM Genetics and Birth Defects

Health news