Gene variant protects women against Alzheimer's

Actually, the older lady should have been long sick: forgetful, disoriented, to care, and the 20 or even 30 years. You should have the fate of their family members, parts of which suffer from an early onset Form of Alzheimer's disease, and this since generations inherit. Because they, too, contributes to a pathological change in a Gene called Presenilin 1. This Mutation caused irrevocably to the early outbreak of the disease actually.

But this woman was over 70. Birthday is also clear in the head. It was late in the easily forgetful. She is a very special case, the offset from the experts in awe. The researchers wanted to know what the woman protects. After an international Team had analyzed their entire genetic material, found it to be an unusual variant of Alzheimer's, researchers known Gene name APOE 3. The results the Team published this week in the journal "Nature Medicine".

families with a genetic mutation that leads to Alzheimer's disease, are extremely rare, they make up less than one percent of all Alzheimer's patients.

The elderly lady lives in the North-West of Colombia, in the Department of Antioquia, and is part of the largest Alzheimer's family worldwide, with about 5000 members. An estimated 1800 of them carry the Mutation. This means, you can get between 43 and 45 years, Alzheimer's disease, with 49 to 50 years, demented, and die about 10 years later. "La Bobera", the craziness that is called the people in the remote Andean region of the disease until the attending doctor Francisco Lopera found out together with colleagues, that it is Alzheimer's. Probably a Spanish immigrant, brought in the 17th century. Century, the Krankheitsgen in the Region, found by a Team led by Ken Kosik of the University of California, Santa Barbara, USA.

Kosik was also involved in the current study. Together with his group he has found, however, other than just a genetic mutation in the Presenilin-1 Gene in the families. "The reasons why there are in the Region in Colombia, these genetic changes have accumulated, are unknown," says Kosik.

families with a genetic mutation that leads to Alzheimer's disease, are extremely rare, they make up less than one percent of all Alzheimer's patients. In General, the brain disease occurs sporadically from the age of 60. Since the age of. Nevertheless, researchers of the families affected can learn a lot about the progression of the disease.

The Colombian-born you, however, is a bit of a puzzle. Imaging analysis (MRI and PET) showed of your head that large parts of your brain are literally littered with the typical deposits of a Protein fragment, the Beta Amyloid is called. The popular notion that Alzheimer's researchers says that Beta-Amyloid plays a crucial role in the disease, and the trigger for the massive nerve is dying.

APOE determines the risk

The new results contradict this assumption, write US researchers in a comment to the current study. Unless, that is, Beta-Amyloid is only in the presence of unchanged APOE harmful for the nerves. Or conversely, the change in the APOE-3 could protect the woman, active prior to the outbreak of the disease, presumed to be Christian Haass, Alzheimer's expert from the Ludwig-Maximilians-University of Munich and the German center for neurodegenerative diseases: "APOE binds to Beta-Amyloid, and it changed the way the Protein fragments accumulate in the brain or how they are to be put away."

The Gene APOE occurs in humans in three variants: APOE 2, 3 and 4. It forms proteins, which are involved in the metabolism of fat. Among other things they supply the nerve cells with cholesterol. The three variants of APOE are known in the Alzheimer's researchers because they influence the risk of developing Alzheimer's disease.

Additional spare

remained, The Colombian superstar a rare mutation in both copies of the APOE-3 gene (called Christchurch-Mutation) is wearing. How these change over the years before Alzheimer's could protect, in spite of the numerous Amyloid deposits in the brain are now exploring the molecular biologists. "We will integrate the gene mutation, the Colombian in human stem cells and look at how microglial cells react to it," says Haass is an example. The biologist is currently focused on micro-glial cells. The phagocytes, which degrade in the brain, especially at the beginning of Alzheimer's disease, the harmful deposits are. Later, they seem to be, however, chronic inflammatory processes involved.

is So extraordinary is the case of the Colombian, it is not the Only one that is protected, in spite of a familial genetic mutation against Alzheimer's disease. The team of researchers Kosik knows a handful of other people in Colombia who carry the abnormal gene, but not until much later memory failures show. In addition to the Colombian family members, there is also an international network of other affected families, called Dian (Dominantly Inherited Alzheimer Network).

New ideas for therapies

these family members are the Lucky few who have gotten in spite of genetic modification and the appropriate age, no Alzheimer's. Maybe researchers will discover in them, as in the case of the Colombian protective genes, whose function is to enlighten and thus, new ideas for future therapies against Alzheimer's find.

Created: 07.11.2019, 20:36 PM