London: A gene (SIRT1) linked to slowing the aging process in cells also appears to dramatically delay the onset of Huntington’s disease (HD) and slow the progression of the relentless neurodegenerative disorder, researchers have discovered.
HD in humans is a rare, fatal disorder caused by a mutation in a single gene and marked by progressive brain damage.
Symptoms, which typically first appear in midlife, include jerky twitch-like movements, coordination troubles, psychiatric disorders and dementia.
Although the gene responsible for HD was identified in 1993, much is still unknown about the biology of the disease. There is no cure, and there are no effective treatments.
In studying two separate mouse models of HD, Johns Hopkins researchers found that mice bred with Huntington’s disease and a greater than usual amount of the enzyme whose blueprint is carried by the SIRT1 gene had improved motor function and reduced brain atrophy.
Other studies have suggested SIRT1 has anti-aging and anti-inflammatory properties that scientists are only beginning to understand.
“Our research opens new avenues in the fight against HD, suggesting that if we target SIRT1, we may be able to find drugs that offer help to patients for whom we currently have really nothing that works,” said Wenzhen Duan, M.D., Ph.D., an associate professor of psychiatry and behavioural sciences at the Johns Hopkins University School of Medicine.
Duan and her colleagues have determined that SIRT1 seems to prevent a decline in levels of brain-derived neurotrophic factor, or BDNF, which acts as nutrition for brain cells. People with HD tend to have low levels of BDNF.
The findings will be published online in Nature Medicine.