Harvard Researchers Uncover Mechanisms of Genetic Mutations that lead to familial Alzheimer’s disease

Harvard Researchers Uncover Mechanisms of Genetic Mutations that lead to familial Alzheimer’s disease
A recently published study conducted by a team of researchers from Harvard Medical School, Boston, suggests that the currently held assumptions about the pathogenic mutation process associated with the onset of inherited or familial Alzheimer’s disease (FAD) may be inaccurate. The study entitled “Presenilin-1 Knock-in Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease,” aimed to address the important unanswered questions as to whether a specific mutation may be responsible for compromising the essential functions in the brain that result in FAD.  The results were published in the latest issue of Neuron. Background Terminology: Genetic Mutation: is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Presenilin (PSEN): protein responsible for cutting apart (cleaving) other proteins into smaller pieces called peptides. β-amyloid peptide (Aβ): abnormal accumulation of this peptide in the brain is associated with Alzheimer’s disease (AD). AD is the leading cause of dementia worldwide. According to the CDC as many as 5 million Americans are suffering from AD. FAD is a rare form of AD that affects approximately 1 percent of people with the disorder. FAD symptoms appear at a remarkably early age, with an onset occurring sometimes in a person's thirties, forties, and fifties (and very rarely in the late twenties). FAD progresses exactly as AD, the patient will lose memory and other mental functions, and become completely dependent on others. At this time, there is no cure or treatment to slow down the disease. Previous work in the field of AD research has shown that 80% of genetic mutations attributable to FAD are found within PSEN genes, but the exact
Subscribe or to access all post and page content.