Featured Research

from universities, journals, and other organizations

New gene thought to be cause in early-onset forms of Alzheimer's disease

Date:
April 4, 2012
Source:
INSERM (Institut national de la santé et de la recherche médicale)
Summary:
A new gene that causes early onset of Alzheimer's disease has been discovered, researchers say. The research scientists showed that in the families of five of 14 patients suffering from the disease, mutations were detected on the gene SORL1.

A new gene that causes early-onset of Alzheimer's disease has been discovered by the research team of Dominique Campion at the Insert unit 1079 "Genetics of cancer and neuropsychiatric diseases" in Rouen. The research scientists showed that in the families of 5 of 14 patients suffering from the disease, mutations were detected on the gene SORL1. This gene regulates the production of a peptide involved in Alzheimer's disease.

Related Articles


The results of this study have been published in the review Molecular Psychiatry, issued April 3rd.

Precise genetic mutations have been seen to play a part in early-onset forms of Alzheimer's disease. However, there is a sub-population of patients in whom there is no mutation of these genes. So how can these patients, in whom there are no pre-established mutations, be suffering from early-onset Alzheimer's?

To explore this question, the research team working under the leadership of Dominique Campion and Didier Hannequin (Inserm unit 1079 and Centre national de référence malades Alzheimer jeunes, University hospital Rouen), studied the genes from 130 families suffering from early-onset forms of Alzheimer's disease. These families were identified by 23 French hospital teams within the framework of the "Alzheimer Plan." Of these families, 116 presented mutations on the already known genes. But in the 14 remaining families, there was no mutation at all observed on these genes.

A study of the genome of the 14 families using new whole DNA sequencing techniques showed evidence of mutations on a new SORL1 gene. The SORL1 gene is a coding gene for a protein involved in the production of the beta-amyloid peptide. This protein is known to affect the functioning of the brain cells (see insert).

Two of the identified mutations are responsible for an under-expression of SORL1, resulting in an increase in the production of the beta-amyloid peptide. "The mutations observed on SORL1 seem to contribute to the development of early-onset Alzheimer's disease. However, we still need to identify more clearly the way in which these mutations are transmitted on the SORL1 gene within families" says Dominique Campion.


Story Source:

The above story is based on materials provided by INSERM (Institut national de la santé et de la recherche médicale). Note: Materials may be edited for content and length.


Journal Reference:

  1. C Pottier, D Hannequin, S Coutant, A Rovelet-Lecrux, D Wallon, S Rousseau, S Legallic, C Paquet, S Bombois, J Pariente, C Thomas-Anterion, A Michon, B Croisile, F Etcharry-Bouyx, C Berr, J-F Dartigues, P Amouyel, H Dauchel, C Boutoleau-Bretonnière, C Thauvin, T Frebourg, J-C Lambert, D Campion. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Molecular Psychiatry, 2012; DOI: 10.1038/mp.2012.15

Cite This Page:

INSERM (Institut national de la santé et de la recherche médicale). "New gene thought to be cause in early-onset forms of Alzheimer's disease." ScienceDaily. ScienceDaily, 4 April 2012. <www.sciencedaily.com/releases/2012/04/120404102953.htm>.
INSERM (Institut national de la santé et de la recherche médicale). (2012, April 4). New gene thought to be cause in early-onset forms of Alzheimer's disease. ScienceDaily. Retrieved March 6, 2015 from www.sciencedaily.com/releases/2012/04/120404102953.htm
INSERM (Institut national de la santé et de la recherche médicale). "New gene thought to be cause in early-onset forms of Alzheimer's disease." ScienceDaily. www.sciencedaily.com/releases/2012/04/120404102953.htm (accessed March 6, 2015).

Share This


More From ScienceDaily



More Mind & Brain News

Friday, March 6, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Former NFL Players Donate Brains to Science

Former NFL Players Donate Brains to Science

Reuters - US Online Video (Mar. 3, 2015) — Super Bowl champions Sidney Rice and Steve Weatherford donate their brains, post-mortem, to scientific research into repetitive brain trauma. Jillian Kitchener reports. Video provided by Reuters
Powered by NewsLook.com
Alzheimer's Protein Plaque Found In 20-Year-Olds

Alzheimer's Protein Plaque Found In 20-Year-Olds

Newsy (Mar. 3, 2015) — Researchers found an abnormal protein associated with Alzheimer&apos;s disease in the brains of 20-year-olds. Video provided by Newsy
Powered by NewsLook.com
This Nasal Treatment Could Help Ease Migraine Pain

This Nasal Treatment Could Help Ease Migraine Pain

Newsy (Mar. 2, 2015) — Researchers gave lidocaine to 112 patients, and about 88 percent of the subjects said they needed less migraine-relief medicine the next day. Video provided by Newsy
Powered by NewsLook.com
How Facebook Use Can Lead To Depression

How Facebook Use Can Lead To Depression

Newsy (Mar. 1, 2015) — Margaret Duffy of the University of Missouri talks about her study on the social network and the envy and depression that Facebook use can cause. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins