Researchers have discovered that a new genetic mutation could be the root cause of early-onset Alzheimer’s, and it may protect people with a variant of a different gene that predisposes them to developing the disease.
The genetic trait may help delay early onset Alzheimer’s and could offer the potential for new therapeutic targets for early-onset Alzheimer’s disease.
New genetic mutation could be the root cause of early-onset Alzheimer’s
Alzheimer’s disease, the most common cause of dementia, causes the brain to shrink and brain cells to eventually die. It is a gradual decline in memory, thinking, behavior and social skills, all of which changes affect a person’s healthy ability to function. There’s currently no cure for Alzheimer’s disease.
Alzheimer’s disease most commonly affects older adults and although most people do not develop it before the age of 65, early-onset Alzheimer’s disease can sometimes appear at an earlier age – even in people’s 30’s and 40’s.
Some people are genetically predisposed to develop the condition before the age of 65.
Researchers believe most of these cases are caused by genetic factors, including three rare genetic variants — amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
A recent study published in The New England Journal of Medicine shows that researchers from Mass General Brigham have discovered a genetic variant that seems to help protect people genetically predisposed to developing early-onset Alzheimer’s disease.
This may offer potential for new therapeutic targets as well.
Study offers benefits
For the study, researchers focused on two specific genetic mutations. The first is called the Paisa mutation (Presenilin-1 E280A), and the second is on the APOE3 gene, called Christchurch (APOE3Ch).
After reviewing this study, Karen D. Sullivan, PhD, ABPP, a board-certified neuropsychologist, told Medical News Today this exciting study adds new evidence about protective mechanisms in the condition.
She explained they “think about 60-80% of Alzheimer’s disease cases are related to genetic variants,” and stated: “There will be no cure for Alzheimer’s disease without cracking the genetic code. We need larger participant groups and people with other subtypes of Alzheimer’s disease, including the much more common, older-onset variant, to see if the protective effects of the Christchurch variant are at play there too.”
Explaining why knowing the genetic variants can help, Manisha Parulekar, MD, FACP, AGSF, CMD said it could be beneficial.
The director of the Division of Geriatrics at Hackensack University Medical Center said: “We are continuing to learn about pathophysiology and risk factors for Alzheimer’s and early-onset Alzheimer’s. Having a family member with early-onset disease is stressful for the individual. Having access to information about protective genetic markers will be beneficial to navigate these complex conversations.”
