New gene mutation linked to Alzheimerâs
Scientists have discovered a new gene mutation that could contribute to Alzheimer’s disease. It was known that specific genetic mutations were linked to early-onset forms of Alzheimer’s, but some patients have no mutations on the genes. To understand this, researchers looked at the genes of 130 families suffering from early-onset forms of Alzheimer’s. Of these families, 116 presented the known mutations, but the remaining 14 did not. Researchers then studied the genome of the 14 families using whole DNA sequencing techniques that showed evidence of mutations on a new SORL1 gene, which codes for a protein involved in the production of a peptide which is known to affect the function of brain cells. “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,” Dominique Campion, who led the research team, said.