Parkinson's disease study offers insights on genetics of the disease
Research led by the 爆料王's Brain and Mind Centre has found a protein abnormality linked to brain cell loss in people with Parkinson's disease that is also present in some inherited forms of amyotrophic lateral sclerosis (ALS).聽
The finding of a common protein abnormality in these degenerative diseases supports a hypothesis among experts that abnormal deposition of proteins in many neurodegenerative disorders reflects an early change in these proteins.
鈥淲e have pinpointed a protein abnormality known as the 鈥楽OD1 fingerprint鈥� in regions of neuronal loss in the Parkinson鈥檚 disease brain,鈥� said who led the research published in .
鈥淲e believe this loss of neurons results from a combination of oxidative stress and a regional deficiency in copper, both of which occur specifically in vulnerable regions of the Parkinson鈥檚 disease brain.鈥�
Hope for Parkinson's disease patients
This new finding may offer hope to Parkinson鈥檚 disease patients, since therapies targeting abnormal SOD1 protein have resulted in substantial improvements in motor function and survival time in models of ALS, prompting their progression into human clinical trials in this disease. This new finding suggests that such therapies may also be useful to treat Parkinson鈥檚 disease.聽
The discovery that the abnormal SOD1 protein is also linked to nerve cell loss in the Parkinson鈥檚 disease brain, suggests coincident degenerative pathways in Parkinson鈥檚 disease and ALS.
Alterations in the anti-oxidant enzyme superoxide dismutase () underlie around 20 percent of familial (f)ALS cases, where mutations to the sod1 gene result in functional and/or structural defects, including misfolding of the protein and loss of copper binding capacity. The aggregation of mutant SOD1 is believed to underlie motor neuron death in these ALS patients.