Lack of protein linked to dementia
Washington: A shortage of a protein called TDP-43 causes muscle wasting and stunted nerve cells, a new study has suggested.
This finding supports the idea that malfunction of this protein plays a decisive role in ALS and FTD.
ALS is an incurable neurological disease which manifests as rapidly progressing muscle wasting.
Both limbs and respiratory muscles are affected. This leads to impaired mobility and breathing problems.
Patients commonly die within a few years after the symptoms emerged. In rare cases, of which the British physicist Stephen Hawking is the most notable, patients can live with the disease for a long time.
In Germany estimates show over 150,000 patients suffering from ALS - an average of 1 in 500 people.
Over the last few years, there has been increasing evidence that ALS and FTD - a form of dementia associated with changes in personality and social behaviour - may have similar or even the same origins.
The symptoms overlap and common factors have also been found at the microscopic level.
In many cases, particles accumulate and form clumps in the patient`s nerve cells: this applies particularly to the TDP-43 protein.
"Normally, this protein is located in the cell nucleus and is involved in processing genetic information," molecular biologist Dr. Bettina Schmid, who works at the DZNE Munich site and at LMU said.
"However, in cases of disease, TDP-43 accumulates outside the nucleus forming aggregates," Schmid said.Schmid that it is not yet clear whether these clumps are harmful.
"However, the protein`s normal function is clearly disrupted. It no longer reaches the nucleus to perform its actual task. There seems to be a relationship between this malfunction and the disease," Schmid said.
The study is published in the Proceedings of the National Academy of Sciences of the USA (PNAS).