Scientists have found 13 rare variants of genes that are linked to Alzheimer’s disease in a new study. These gene variants have been discovered by experts for the first time. In the study, experts have done a full genetic sequencing of people from 600 families along with those who have been dealing with Alzheimer’s disease. They have looked for rare versions of genes that can lead to the disease. The team of experts has sequenced the genomes of nearly 2247 people in a genome-wide association study (GWAS). At the end of the study, experts have come up with 13 unidentified and rare variants of genes that have been linked to synapse function, neural growth, and neuroplasticity. The lead author of the study, Dmitry Prokopenko from Massachusetts General Hospital’s McCance Center for Brain health has said that the findings of the study have uncovered the next stage of disease-gene breakthrough that has helped experts to observe the entire sequence of the human genome and identify unusual genomic variants. Earlier, it has not been possible to do, said the expert. The findings of the study have been released in Alzheimer’s And dementia- The Journal of the Alzheimer’s Association.
The vice-chairperson of Neurology and director of Massachusetts General Hospital’s Genetics and Aging Research Unit, Dr. Rudolph Tanzi has said that finding out rare genomic versions of genes can bring up essential details about the biology of the dreaded disease. Dr. Rudolph Tanzi as well has been the last author of the GWAS study. He has said that the findings of the study will help experts to study these rare gene variants in the animal models and the findings will help them identify how these rare genomic variants can affect brain function. The authors of the study have said that they need to find out how prevalent these rare gene variants are in the general population. It will help them to assess the risk of developing Alzheimer’s disease. Dr. Rudolph Tanzi has said that identifying the rare version of genes might prove to be crucial in the history of medical science. He has said that with the findings of the study, the team of experts has been able to create a new model for going further than standard GWAS and links the disease with regular genomic variants.
Health experts have said that there is no one particular type of gene that is responsible for Alzheimer’s disease. However, they are trying to find out and study more about what genomic variations and combinations that might result in the increased risk of the disease. The authors of the study have said that the new study has brought scientists closer to have a full understanding of what it means by finding out more possibilities of the disease. Dr. Rudolph Tanzi has said that these unusual gene variants are hidden dark matter of the human genome. Experts have said that Whole Genome Sequencing (WGS) allows genome-wide analyses to find out rare variants of genes that contribute to the risk of Alzheimer’s disease. Alzheimer’s disease (AD) is one of the most common neurological diseases found across the world. The disease slowly and steadily disrupts the cognitive function of the patients, said the experts. Experts have said that vulnerability to AD can be determined by monogenic and polygenic risk factors, as well as by nature exposure.