Navigation Links
Scientists Identify New Genetic Mutation Behind Common Dementia

Scientists have identified a new gene mutation that is associated with frontotemporal dementia-a common type of the condition, which is also known as Prick's disease .

Frontotemporal dementia involves progressive shrinking of the areas of the brain that control behaviour and language. Language problems, personality changes, and inappropriate social behaviour are its symptoms.

Unlike Alzheimer's disease, this Frontotemporal dementia does not affect memory in the early stages, according to the background information in an article published in the journal Neurology. The genetic form of the disease is rare, and most cases occur randomly, says the write-up.

"We are hopeful that this finding (new genetic mutation) will help us better understand how this disease works and eventually help us develop new therapies for the disease," said study author Dr. Amalia Bruni of the Regional Neurogenetic Centre in Lamezia Terme, Italy.

The researchers discovered the new mutation in the gene named progranulin in an extended family in southern Italy. The genealogy of this family, 36 members of which have had frontotemporal dementia, has been reconstructed for 15 generations, going back to the 16th century.

The researchers say that the mutation in a gene on chromosome 17 halves the production of progranulin, a protein growth factor that helps brain cells survive.

For the study, the researchers conducted DNA tests on 70 family members, including 13 people with the disease. They found the new mutation in nine of the family members with frontotemporal dementia, and 10 people who were too young to have the symptoms of the disease. But four people with the disease did not have the gene mutation.

Dr. Bruni noted that these four people belonged to a branch of the family with the disease in at least three generations.

"These results are intriguing, since the family has two geneti cally distinct diseases that appear almost identical," Dr. Bruni said.

The researcher, however, said that the Italian family did not have any cases with two copies of the mutated gene.

"We would have expected to see cases with two copies of the mutated gene, especially since this family shares much of the same genetic material, as there have been at least five marriages between first cousins over the years," Dr. Bruni said.

"It's possible that loss of both copies of the progranulin gene leads to the death of embryos, and that's why there were no cases with two copies of the mutated gene," the researcher added.

The researchers are now planning to conduct a study to identify the modifying factors responsible for the severity of the disorder, and to identify the second gene responsible for dementia in the same family.

"Another intriguing aspect in this Italian family is the variable age at onset, which ranged from 35 to 87 years in the family members who inherited the same mutation. Our future research will try to identify the modifying factors responsible for the severity of the disorder," said study co-author Dr. Ekaterina Rogaeva of the Centre for Research in Neurodegenerative Diseases at the University of Toronto.


Related medicine news :

1. Scientists plan human cloning clinic in the United States
2. Scientists found ancient Human Germ Killer
3. Scientists locate key hormone involved in appetite control
4. Scientists open the book of life
5. Scientists review SARS
6. Scientists crack dengue fever puzzle
7. Scientists push to lower hidden sodium in food
8. Indian Scientists Make Wide-Ranging Analysis And Annotation Of X Chromosome
9. Scientists have found effective brain regions for deep brain stimulation for Parkinson’s
10. Scientists reveal the secrets of sarcasm
11. Scientists Unveil Mechanism Behind Resistance to Severe Malaria
Post Your Comments:

(Date:11/25/2015)... ... November 25, 2015 , ... Wimbledon ... programs, launches new Wimbledon Athletics Facebook page to educate the public, ... unsuspected cardiac abnormalities. About 2,000 people under the age of 25 die from ...
(Date:11/25/2015)... ... 25, 2015 , ... Smiles by Stevens is pleased to announce ... wrinkling. While many patients are aware of the benefits of Botox® in the treatment ... those suffering with discomfort, soreness, and pain as a result of Jaw Tension, TMJ ...
(Date:11/25/2015)... , ... November 25, 2015 , ... ... decades of music, friendships, and learning in its 65th Anniversary Brillianteen Revue, scheduled ... 5-6. , For 65 years, Brillianteen has been a treasured tradition ...
(Date:11/25/2015)... D.C. (PRWEB) , ... November 25, 2015 , ... Today, ... fatalities on our nation’s roadways has dropped below 10,000 for the first time since ... 10,076 in 2013. , According to data released by the National Highway Traffic Safety ...
(Date:11/25/2015)... ... November 25, 2015 , ... ... I found that regular bras were incredibly uncomfortable," said an inventor from Bronx, ... bra." , She developed the patent-pending RECOVERY BRA for added comfort and support. ...
Breaking Medicine News(10 mins):
(Date:11/24/2015)... 2015  Thanks to a donor with a personal ... Center,s Sister Diane Grassilli Center for Women,s Health now ... San Francisco . Fred ... with a gift of $617,320 that allowed the Center ... Tomosynthesis and Whole Breast Ultrasound. Tomosynthesis, three-dimensional (3-D) mammography ...
(Date:11/24/2015)... 24, 2015 /PRNewswire/ - ESSA Pharma Inc. ("ESSA" or ... today that the first patient has been enrolled in ... treatment for metastatic castration-resistant prostate cancer ("mCRPC"). ... --> the United States ... 1/2 clinical trial, ESSA intends to demonstrate the safety, ...
(Date:11/24/2015)... PUNE, India , November 24, 2015 ... new market research report "Spine Biologics Market by Product Type ... Type (Anterior Cervical Discectomy and Fusion, Posterior Lumbar Interbody Fusion), ... by MarketsandMarkets, the global market was valued at $1.90 Billion ... 2020, at a CAGR of 4.4% during the forecast period ...
Breaking Medicine Technology: