Gene May Link Lou Gehrig’s, Dementia

A U.S. study makes a tentative link between a TDP-43 gene mutation and an inherited form of amyotropic lateral sclerosis, or ALS.

The University of Washington at St. Louis study, published in the Annals of Neurology, found every member of a family affected by an inherited form of ALS — also known as Lou Gehrig’s disease — had a particular mutation in TDP-43. However, not one example of this mutation was found in more than 1,000 people not related to the family and unaffected by the disease.

If we can confirm TDP-43′s association with inherited ALS, mutating this gene may give us a way to model sporadic ALS in laboratory animals for the first time, study senior author Nigel Cairns said in a statement. That could give us a potent tool for better understanding ALS and developing new treatments.

Abnormal TDP-43 may be key in a pathway involved in motor neuron death and has been found in patients with a form of dementia not related to Alzheimer’s disease.

As our understanding of these diseases progresses, we’re starting to see common elements, study co-author Alison Goate said. These may link together a number of important disease entities and pinpoint new targets for therapeutic intervention.