Researchers identify gene variant that protects against Alzheimer's disease

Research published in Genome Medicine details a novel and promising approach in the effort to treat Alzheimer's disease. Brigham Young University professors Perry Ridge and John Kauwe led the discovery of a rare genetic variant that provides a protective effect for high-risk individuals - elderly people who carry known genetic risk factors for Alzheimer's - who never acquired the disease.

In other words, there's a specific reason why people who should get Alzheimer's remain healthy. Study authors believe this genetic function could be targeted with drugs to help reduce the risk of people getting the disease.

"Instead of identifying genetic variants that are causing disease, we wanted to identify genetic variants that are protecting people from developing disease," said Ridge, assistant professor of biology at BYU. "And we were able to identify a promising genetic variant."

That former approach to Alzheimer's disease has been generally effective in producing a list of genes that might impact risk for the disease, but it leaves researchers without sufficient data on what to do next. In this new approach, Ridge and Kauwe develop the biological mechanism by which a genetic variant actually impacts Alzheimer's disease.

Using data from the Utah Population Database - a 20-million-record database of the LDS Church's genealogical records combined with historical medical records from Utah - Ridge and Kauwe first identified families that had a large number of resilient individuals: those who carried the main genetic risk factor for Alzheimer's (E4 Allele) but remained healthy into advanced age.

Using whole genome sequencing and a linkage analysis methodology, they then looked for the DNA that those resilient individuals shared with each other that they didn't share with loved ones who died of Alzheimer's. They discovered the resilient subjects shared a variant in the RAB10 gene while those who got the disease did not share the genetic variant.

Once the researchers identified the potentially protective gene variant, they over expressed it in cells and under expressed it in cells to see the impact on Alzheimer's disease related proteins. They learned that when this gene is reduced in your body, it has the potential to reduce your risk for Alzheimer's.

"There are currently no meaningful interventions for Alzheimer disease; No prevention, no modifying therapies, no cure," Kauwe said. "The discoveries we're reporting in this manuscript provide a new target with a new mechanism that we believe has great potential to impact Alzheimer's disease in the future."

Perry G Ridge, Celeste M Karch, Simon Hsu, Ivan Arano, Craig C Teerlink, Mark TW Ebbert, Josue D Gonzalez Murcia, James M Farnham, Anna R Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M Goate, Christopher Corcoran, JoAnn Tschanz, Lisa A Cannon-Albright, John SK Kauwe.
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.
Genome Medicine, 20179:100. 10.1186/s13073-017-0486-1.

Most Popular Now

FDA grants priority review to Roche's cancer immun…

Roche (SIX: RO, ROG; OTCQX: RHHBY) announced that the US Food and Drug Administration (FDA) has accepted the company's supplemental Biologics License Application (sBLA) a...

Kymriah® (tisagenlecleucel), first-in-class CAR-T …

Novartis today announced the US Food and Drug Administration (FDA) has approved Kymriah® (tisagenlecleucel) suspension for intravenous infusion for its second indication ...

Daily aspirin linked to higher risk in men

Men who take once-daily aspirin have nearly double the risk of melanoma compared to men who are not exposed to daily aspirin, reports a new Northwestern Medicine study. W...

New leads on treating dementia and Alzheimer's

A new research study by scientists in Australia and the US provides an explanation for why clinical trials of drugs reducing proteins in the brain that were thought to ca...

Roche reports a strong start in 2018

Roche (SIX: RO, ROG; OTCQX: RHHBY) has announced that in the first three months of 2018, Group sales rose 6% to CHF 13.6 billion. Sales in the Pharmaceuticals Division in...

To treat pain, you need to treat the patient

People in chronic pain are some of the most difficult patients to treat. They have complex circumstances that medicine can't always remedy. Pain can be amplified, by depr...

Novo Nordisk participates in new research project …

Within the newly started European research project Hypo-RESOLVE, 23 leading international players from academia, industry and civil society have joined forces to find bet...

Chemical octopus catches sneaky cancer clues, trac…

Cancer drops sparse chemical hints of its presence early on, but unfortunately, many of them are in a class of biochemicals that could not be detected thoroughly, until n...

Alcon Cares Project 100 commits to reducing catara…

Alcon, the global leader in eye care and a division of Novartis, has announced Alcon Cares Project 100, which aims to reduce cataract blindness by providing equipment to ...

FDA approves novel preventive treatment for migrai…

The U.S. Food and Drug Administration today approved Aimovig (erenumab-aooe) for the preventive treatment of migraine in adults. The treatment is given by once-monthly se...

First clues to the causes of multiple sclerosis

Multiple sclerosis, which affects 1 in 1,000 people, is frequently characterised by relapses associated with variable functional impairments including among others vision...

Doctors in US and Canada launch sweeping pharmaceu…

The skyrocketing cost of prescription drugs is one of the biggest concerns for American voters. However, in his proposal last Friday, President Donald Trump failed to off...