Published on: April 4, 2012
by Science Daily
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 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.
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.
Research has demonstrated that, when it comes to medical concerns, the fear of developing Alzheimer’s (and other forms of dementia) exceeds the fear of every other type of health condition.
Resilience is a complex concept. As a society, we generally have positive associations with the idea of being resilient, but it is difficult to define exactly what resiliency is, and what makes someone resilient. If...
Higher levels of physical fitness are associated with better brain structure and higher cognitive function, but even a little bit of exercise can keep your brain from shrinking. Exercise can also help improve your sleep...
The material presented through the Think Tank feature on this website is in no way intended to replace professional medical care or attention by a qualified practitioner. WBHI strongly advises all questioners and viewers using this feature with health problems to consult a qualified physician, especially before starting any treatment. The materials provided on this website cannot and should not be used as a basis for diagnosis or choice of treatment. The materials are not exhaustive and cannot always respect all the most recent research in all areas of medicine.