Navigation Links
A new gene thought to be the cause in early-onset forms of Alzheimer's disease
Date:4/4/2012

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. 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 reply to this question, the research team working under the leadership of Dominique Campion and Didier Hannequin (Inserm unit 1079 and Centre national de rfrence 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" states Dominique Campion.

Alzheimer's disease is one of the main causes of dependency among the elderly. It results from neuron degradation in different areas of the brain. Its symptoms include increased alterations to memory, cognitive functions and behaviour disorders that lead to a progressive loss of independence.

Alzheimer's disease is characterized by the development of two types of lesion in the brain: amyloid plaques and neurofibrillary degenerescence. Amyloid plaques are caused by extracellular accumulation of a peptide, beta-amyloid peptide (Aβ) in specific areas of the brain. Neurofibrillary degenerescences are intraneuronal lesions caused by abnormal filamentary aggregation of a protein known as a Tau protein.


'/>"/>

Contact: Inserm Press Office
presse@inserm.fr
INSERM (Institut national de la sant et de la recherche mdicale)
Source:Eurekalert

Related biology news :

1. Diabetes risk factors in young Sri Lankans much higher than previously thought
2. Herbicide may affect plants thought to be resistant
3. New study reveals coral reefs may support much more biodiversity than previously thought
4. The tangled web in Alzheimers protein deposits is more complex than once thought
5. Pesticides pollute European waterbodies more than previously thought
6. Reefs recovered faster after mass extinction than first thought
7. Productivity of land plants may be greater than previously thought
8. Researchers discover freshwater mussel species thought to be extinct
9. Higher estrogen production in the breast could confer greater cancer risk than thought
10. UMD brain cap technology turns thought into motion
11. Retinal cells thoughts to be the same are not, JHU biologist says
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/9/2016)... , UAE, May 9, 2016 ... it comes to expanding freedom for high net worth ... Even in today,s globally connected world, there is still ... system could ever duplicate sealing your deal with a ... second passports by taking advantage of citizenship via investment ...
(Date:4/26/2016)... , April 27, 2016 ... the  "Global Multi-modal Biometrics Market 2016-2020"  report to ... ) , The analysts forecast the ... CAGR of 15.49% during the period 2016-2020.  ... number of sectors such as the healthcare, BFSI, ...
(Date:4/13/2016)... , April 13, 2016  IMPOWER physicians supporting ... are setting a new clinical standard in telehealth thanks ... By leveraging the higi platform, IMPOWER patients can routinely ... pulse and body mass index, and, when they opt ... and convenient visit to a local retail location at ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... Raleigh, NC (PRWEB) , ... June 27, 2016 ... ... have just published their findings on what they believe could be a new ... summary of the new research. Click here to read it now. ...
(Date:6/27/2016)... -- Liquid Biotech USA , Inc. ... Research Agreement with The University of Pennsylvania ("PENN") ... patients.  The funding will be used to assess ... outcomes in cancer patients undergoing a variety of ... to support the design of a therapeutic, decision-making ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... While the ... such as the Cary 5000 and the 6000i models are higher end machines that ... the height of the spectrophotometer’s light beam from the bottom of the cuvette holder. ...
(Date:6/23/2016)... , June 23, 2016   Boston ... of novel compounds designed to target cancer stemness ... has been granted Orphan Drug Designation from the ... treatment of gastric cancer, including gastroesophageal junction (GEJ) ... inhibitor designed to inhibit cancer stemness pathways by ...
Breaking Biology Technology: