A new genetic mutation identified in common dementia
Researchers have identified a new gene mutation linked to frontotemporal dementia, according to a study published in the July 10, 2007, the number of Neurology, the medical journal of the American Academy of Neurology. Frontotemporal dementia, a form that is known as a disease involves progressive narrowing of the betting areas of the brain that control behavior and language. Symptoms include language problems and personality changes, often with inappropriate social behavior. In contrast to Alzheimers dementia, the disease has no memory effect in the early stages.The genetic form of the disease is rare, most cases come at random.We hope that this discovery will help us better understand how the disease works and eventually help us develop new therapies for the disease,
said study author Amalia Bruni, MD, Regional Center of Neurogenetics of Lamezia Terme, Italy. Researchers have discovered a new mutation in the gene named progranulin in an extended family in southern Italy. The genealogy of this family has been reconstructed for 15 generations, dating back to the 16 th century, 36 family members have had frontotemporal dementia.For this study, DNA tests were performed on 70 family members, including 13 persons with the disease. This is an important result that we have pursued for more than 10 years, said co-author Ekaterina Rogaeva, PhD, with the Centre for Research on Neurodegenerative Diseases at the University of Toronto.The mutation identified in this study is a gene on chromosome 17 mutation leads to a loss of progranulin, a protein
growth factor that helps brain cells survive. The mutation causes only half of the protein is produced, since only one copy of the gene is active. The production of much progranulin has been associated with cancer. The new gene mutation in nine of those family members with the disease and 10 people are still too young to have symptoms of the disease found.However, four people with the disease do not have the mutation. Carla Pages: [1] 2 3