Researchers find gene that triples risk of developing Alzheimer's disease

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Group of researchers from 44 different institutions around the world, including scientists from the Mayo Clinic, the University of Toronto and the Univ...

Group of researchers from 44 different institutions around the world, including scientists from the Mayo Clinic, the University of Toronto and the University of Nottingham have discovered a gene that triples the risk of developing Alzheimer’s disease.

The international group of scientists utilized the Nottingham ARUK DNA Bank, one of the biggest collections of DNA pooled from Alzheimer’s patients.

The team of investigators was able to piece together the new set of findings with sequencing techniques that focused on the TREM2 gene, which later lead to the identification of a group of rare variations in TREM 2 that was found more frequently in 1,092 Alzheimer’s disease patients as compared to the control group of 1,107 healthy individuals.

Dr. Peter, St George-Hyslop, Director of the Tanz Centre for Research in Neurodegenerative Diseases said, “This discovery provides an increasingly firm link between brain inflammation risk for Alzheimer’s.” He also said, “This is an important step towards unraveling the hidden causes of this disease, so that we can develop treatments and interventions to end one of the 21st century’s most significant health challenges.”

Further, in a group of follow-up studies, the researchers evaluated R47H, the most common variant. The physicians from the Mayo Clinic evaluated the patients and control group patients.

Based on the findings, it was noted that the R47H variant in TREM2 elevated the risk of developing Alzheimer’s disease significantly. “The TREM2 variant may be rare, but it is potent,” explained Minerva Carrasquillo, a scientist with the Mayo Clinic. He also said, “In our series, it was present in 1.9 percent of the Alzheimer’s patients and in only 0.37 percent of the controls. This strong effect rivals that of the well-established genetic variant known as APOE4, and it was observed both in our study and in the independent study led by decode that was published with ours. R47H isn’t fully penetrant — meaning that not all people who have the variantwill develop Alzheimer’s and in those who do, other genes and environmental factors will also play a role — but like APOE4 it does substantially increase risk.”

Rosa Rademakers, a researcher at the Mayo Clinic said, “The variant found in our study identifies a fascinating new Alzheimer’s disease gene, TREM2, which is involved in the immune system.” Rosa also said, “This fits well with other evidence linking the immune system to Alzheimer’s disease, but additional studies are needed to establish that R47H does, in fact, act by altering immune function. Fortunately, this variant changes an amino acid in TREM2 and that will greatly facilitate the biological studies that follow.” 

Researchers are of the view that the study comes at an important junction in time as the cause of Alzheimer’s is still not clear. The scientists also believe that the disease is due to a complex mix of environmental and genetic factors.


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