Major Breakthrough in Alzheimer’s Disease Research: Gene identified

In a recent discovery scientists claim that they have found a new gene related to the onset of Alzheimer`s disease. This comes as a new hope for the treatment of Alzheimer`s which was considered incurable till now.

Scientists from Washington have claimed that they have identified a new gene linked to Alzheimer's disease named SORL1. SORL1 is a neuronal sortilin-related receptor. Alzheimer’s is a brain disorder that causes dementia in the elderly people and has so far been incurable. In a report published in the journal- Nature Genetics, researchers have reported that abnormalities in a gene called SORL1 increased the risk for the disease and according to them this new finding can prove to be of great help to the scientists to work on the development of new treatments and medicine.

The late-onset form is the most prevailing form of this disease as is suggested by the research data which says that around 90% of the Alzheimer’s cases are of late-onset form affecting people mostly people of the age 65 and above. It rarely affects the people within the age-group of 30 to 65.

DNA samples from around 6,000 people from four different groups: Caribbean’s, Europeans, Black Americans and Arabs were taken and experimented. Certain variations in SORL1 were found to be occurring more often in people with late-onset Alzheimer's disease than in healthy people.

Several genes have been linked with early Alzheimer's, but so far only one other gene has been identified as a risk factor for late-onset Alzheimer's. It is called ApoE4. It was identified in 1993. Simultaneous studies of these early and late phase genes can help the scientists in better understanding of the causes and the measures to control this disease.

Scientists are of the view that in the initial stages of Alzheimer’s, Plaques are formed. These plaques are formed by the accumulation of a material called Amyloid, in the brain. These plaques further causes the formation of Amyloid Precursor Protein (APP). The main function of SORL1 is to control the distribution of this amyloid precursor protein inside the nerve cells of brain.

When it functions normally, it does not allow the conversion of this APP into a byproduct which is formed by the degradation of this protein. This byproduct is called Amyloid Beta Peptide. When SORL1 is not functioning properly, more and more amyloid peptide is formed leading to the Alzheimer’s disease. These variations in expression of SORL1 is tissue-specific. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.