Gene research hope for Alzheimer’s
Sunday 27th October 2013, 6:10PM GMT.
A rare childhood disease may hold clues to treating Alzheimer’s and Parkinson’s, a study has found.
Scientists analysing A-T disease, which leaves youngsters unable to walk by adolescence, have found new ways of understanding the more common neurodegenerative diseases, according to the report in the online journal Nature Neuroscience.
Children born with A-T have mutations in both of their copies of the ATM gene and cannot make normal ATM protein, and experts at Rutgers University in New Jersey in the US hope their research will lead to new therapies for Alzheimer’s and Parkinson’s.
The rare genetic childhood disorder – which occurs in about one in 40,000 births – leads to problems in movement, co-ordination, equilibrium and muscle control as well as a number of other deficiencies outside the nervous system.
Using mouse and human brain tissue studies, the researchers from Rutgers found that without ATM, the levels of a regulatory protein known as EZH2 go up.
Looking through the characteristics of A-T disease in cells in tissue culture and in brain samples from both humans and mice with ATM mutation, they found that the increase in EZH2 was a major contributing factor to the neuromuscular problems caused by A-T.
Professor Ronald Hart, from the department of cell biology and neuroscience, said: “We hope that this work will lead to new therapies to prevent symptoms in those with A-T disease.
“But, on a larger level, this research provides a strong clue toward understanding more common neurodegenerative disorders that may use similar pathways. It is a theme that has not yet been examined.”