Share This Page

Secrets to Alzheimer's sought in link to Down syndrome

| Sunday, Nov. 17, 2013, 6:00 p.m.

Research to unravel for the first time the complex genetic mechanisms shared by Alzheimer's disease and Down syndrome is gaining momentum in studies by Johnson & Johnson and patient advocacy groups.

By 40, almost everyone with Down syndrome has beta amyloid deposits in their brains reflective of the protein clumps seen in Alzheimer's in the general population, autopsy and imaging studies show. By 50, half have dementia.

While the high incidence in Down patients has been noted for decades, scientists are only now seeking to use the quicker progression to gauge how Alzheimer's grows in the general population.

At a time when drug companies have been frustrated in their efforts to slow the disease, the link to Down syndrome may hold the promise of a new path toward finding an effective treatment.

“In a way, Down syndrome is a model disease for Alzheimer's,” said Mike Krams, vice president of quantitative sciences at J&J's Janssen Pharmaceuticals unit, which met to discuss a three-year pilot study.

Not everyone with Down syndrome shows signs of dementia as they age, even as the amyloid accumulates. Finding out what prevents Alzheimer's in these patients may provide clues for the general population, Krams said.

The New Brunswick, N.J.-based company is developing a drug meant to stop or slow beta amyloid formation by preventing a parent protein from being cut into smaller parts. Because Down syndrome patients have extra amounts of this precursor protein, they may benefit from that drug, Krams said.

At the same time, five researchers in the United States and Israel last month were awarded a combined $1.2 million to investigate aspects of the link between the diseases in an effort bankrolled by the Global Down Syndrome Foundation in Denver and the Chicago-based Alzheimer's Association.

Studies into Down syndrome have long presented challenges and are often blocked by family members or legal guardians. Now, by using improved genetic data, new scanning technology and better cognitive testing, researchers in both diseases are able to gather data in a bid to track Alzheimer's progress in living patients, rather than having to wait to perform autopsies.

“Most people who study Alzheimer's disease don't really see individuals with Down syndrome frequently,” said Ira Lott, head of the University of California at Irvine's Down syndrome program. “It's been a matter of cross-communication.”

The grant to the five researchers was awarded Oct. 29, and it's designed to support work that is investigating the interplay of certain genes that may lead to overproduction of beta amyloid; whether certain biomarkers can be used to track disease progression in Down syndrome patients; and whether it's possible to make a DNA vaccine.

Researchers will start their work as life expectancy of those with Down syndrome has doubled to 60 during the last 30 years, according to the National Institutes of Health.

TribLIVE commenting policy

You are solely responsible for your comments and by using TribLive.com you agree to our Terms of Service.

We moderate comments. Our goal is to provide substantive commentary for a general readership. By screening submissions, we provide a space where readers can share intelligent and informed commentary that enhances the quality of our news and information.

While most comments will be posted if they are on-topic and not abusive, moderating decisions are subjective. We will make them as carefully and consistently as we can. Because of the volume of reader comments, we cannot review individual moderation decisions with readers.

We value thoughtful comments representing a range of views that make their point quickly and politely. We make an effort to protect discussions from repeated comments either by the same reader or different readers

We follow the same standards for taste as the daily newspaper. A few things we won't tolerate: personal attacks, obscenity, vulgarity, profanity (including expletives and letters followed by dashes), commercial promotion, impersonations, incoherence, proselytizing and SHOUTING. Don't include URLs to Web sites.

We do not edit comments. They are either approved or deleted. We reserve the right to edit a comment that is quoted or excerpted in an article. In this case, we may fix spelling and punctuation.

We welcome strong opinions and criticism of our work, but we don't want comments to become bogged down with discussions of our policies and we will moderate accordingly.

We appreciate it when readers and people quoted in articles or blog posts point out errors of fact or emphasis and will investigate all assertions. But these suggestions should be sent via e-mail. To avoid distracting other readers, we won't publish comments that suggest a correction. Instead, corrections will be made in a blog post or in an article.