14 DAY TRIAL // Two genetic mutations called V44M and V44A are responsible for the development of Familial Alzheimer's Disease (FAD), a type of the neurodegenerative disorder that affects a small portion of the general population. The finding could lead to the development of new therapies against the condition.
The work was led by researcher Chunyu Wang, from the Rensselaer Polytechnic Institute (RPI), and is detailed in the January 6 issue of the esteemed scientific journal Nature Communications. The study shows how the two mutations are linked to biochemical changes that occur in FAD.
The changes in question refer to the accumulation of the beta-amyloid 42 peptide in the human brain, which is widely considered to be a hallmark of all forms of Alzheimer's. Usually, this molecule can be found in a 1-to-9 ratio with a related peptide, called beta-amyloid 40. In the Alzheimer brain, this ratio is considerably higher.
“The mutations that cause FAD lead to an increased ratio of Aß42 over Aß40,” Wang explains. This happens when the V44M and V44A mutations increase the likelihood of Aß42 peptide being produced in the brains of patients suffering from mild cognitive impairment, which is often a precursor to FAD, EurekAlert reports.