United States – Among carriers of a particular gene mutation suspected to cause Alzheimer’s disease, the presence of brain-related alterations most often develop almost certainly, a new study says.
Key Findings
It has been revealed that persons who carry a single and mutated APOE4 gene bear the main genetic risk for late-onset Alzheimer’s, the researchers disclosed, as reported by HealthDay.
Almost everyone who had two copies of the APOE4 gene mutation had high levels of the amyloid plaques, specific to Alzheimer’s disease, by the age of 55 years, reported the researcher on May 6 in the journal Nature Medicine.
Researchers reported that when they reached age 65, about 95% of participants with two APOE4 genes demonstrated abnormal amyloid levels in their cerebrospinal fluid, and 75% displayed positive amyloid scans. Amyloid beta plaques are one of the first telltale signs of Alzheimer’s.
Implications of the Study
These studies may suggest that the APOE4 genotype represents a new genetic variant of Alzheimer’s disease, said Dr. Juan Fortea, director of the Memory Unit at the Neurology Service of the Sant Pau Research Institute in Barcelona, Spain.
“This gene has been known for over 30 years, and it was known to be linked with a higher risk of getting Alzheimer’s disease. But now we know that virtually all individuals with this duplicated gene develop Alzheimer’s biology,” Fortea said in a news release.
“This is important because they represent between 2 and 3% of the population,” he added.
Research Methodology
In their study, Fortea and associates used data from 3,300 brain donors, including 273 people carrying two APOE4 genes.
The researchers also used the clinical data of more than 10,000 patients with Alzheimer’s, including 519 people with two copies of APOE4, as reported by HealthDay.
Significance of the Findings
“The data clearly show that having two copies of the APOE4 gene not only increases the risk but also anticipates the onset of Alzheimer’s, reinforcing the need for specific preventive strategies,” the researcher said in a press release, director of the Sant Pau Research Institute’s Neurology Service Dr. Alberto Lleó.
An individual who has two copies of APOE4, without a doubt, gets an Alzheimer’s. That person would be the focus of clinical trials where the scientists can test the effectiveness of prevention and treatment methods.