Colombian Village Holds Secrets for Alzheimer’s Patients

New hope for Alzheimer’s patients may come from the tiny Colombian village of Angostura, high in the Andes. Scientists plan to study 5,000 members of a family in the Antioquia region, to see if Alzheimer’s can be prevented with early treatment.

Members of the Colombian clan calling themselves Paisas share Basque heritage. Over the past 300 years, due to isolation and intermarriage, many members of the extended family share a gene mutation for early-onset Alzheimer’s. Individuals with this rare gene always develop Alzheimer’s, usually between the ages of 38 and 47. The Paisa mutation is a gene identified 28 years ago by Dr. Francisco Lopera, a neurologist in Medellin. The mutation is a distinct protein on the presenilin of the first gene on chromosome 14.

Any progress in treating this family would have far-reaching effects in preventing the more common late-onset type of Alzheimer’s, which usually affects patients over 65. More than 5.2 million 5.3 million Americans have Alzheimer’s. Worldwide, more than 30 million people suffer from the disease – and that number is expected to double or triple by 2050.

By the time a patient develops the symptoms of dementia, the brain is too badly damaged to respond to drugs. Some researchers believe that current Alzheimer’s drugs would be effective, if they could be administered before brain damage starts.

One of the purposes of the study is to identify diagnostic tests for markers that predict Alzheimer’s, such as brain changes or specialized proteins. Once those biomarkers are identified, doctors can develop treatments for them, just as high blood pressure is treated today. The study will investigate whether teenagers or even children in the clan show brain changes that are the earliest signs of Alzheimer’s.

Younger, healthier patients also have fewer complicating factors like heart disease or diabetes, making them better test subjects for Alzheimer’s drugs.

Members of the Paisas clan have chosen not to be informed of their genetic status, since there is no effective treatment for the disease they will inevitably develop. Instead, researchers will treat the entire clan, giving those who do not carry the gene a placebo.

Some clan members who carry the Alzheimer’s gene will receive a treatment selected by an independent panel. Others will receive a placebo. All will be monitored for symptoms of the disease. Doctors believe that if they can delay the onset of symptoms by even a few years, the patients’ quality of life will greatly improve. From an ethical standpoint, patients who would inevitably develop Alzheimer’s by the age of 47 have little to lose from participating in the study, and much to gain if the research is successful.

By Joni Holderman, [email protected], contributing reporter for Mental Health News.