First diagnosed Alzheimer's case cleared up

Scientists were finally able to elucidate the first case of Alzheimer's disease through a DNA analysis

12/22/2012

The degenerative disease Alzheimer's disease is named after the discoverer Alois Alzheimer. The physician first diagnosed the disease with his patient Auguste D about 100 years ago. She entered the history of medicine as the first case of Alzheimer's disease. In collaboration, German and Australian scientists have now analyzed the genome and found a rare gene mutation.

First known Alzheimer's case
Auguste D. died in 1906 in a Frankfurt hospital following her illness. After the patient's death, Alois Alzheimer examined the brain. After the analysis, the physician presented a new disease fes. Until today, many details were unclear, which is why the first Alzheimer case was finally cleared up by a science team.

For the first time, researchers from the Institute of Human Genetics of the Justus Liebig University Giessen, in collaboration with a scientist from the Brain Research Institute of the University of Sydney, Australia, have succeeded in carrying out a molecular investigation of the first known Alzheimer's case. The results were in the prestigious Journal „The Lancet Neurology“ released.

About 95 percent of those affected fell ill beyond the age of 65. At about 5 percent Alzheimer already occurs before the 65th birthday. 50 percent of the early variant has a genetic mutation of a single gene.

Alzheimer DNA analyzed
„For years researchers have speculated whether the first named Alzheimer's case Auguste D. suffered from this genetic predisposition.“ Professor Ulrich Müller, Director of the Institute of Human Genetics of the University of Giessen, and his colleague Pia Winter, in collaboration with Professor Manuel Graeber, neuropathologist at the Brain and Mind Research Institute of the University of Sydney, succeeded for the first time in a histological study made by Alois Alzheimer in 1906 Brain slices to isolate DNA-Matrial. Using this DNA, the scientists looked for mutations in one of the known EOAD mutated genes. Using this DNA, the researchers have been looking for mutations. They found the so-called gene presenilin 1 (PSEN1).

This mutation leads to a limitation of the functions of the enzyme complex of which presenilin 1 is a component. The mutation alters the function of the enzyme complex, which normally involves the cleavage of proteins that can lead to the formation of amyloid plaques. These plaques are characteristic of Alzheimer's disease.

First Alzheimer's patient suffered from a rare variant
Thus, it is clear that Auguste D. suffered from a rare form of Alzheimer's. Previously, this assumption had already been cherished, as Auguste D. was only in the mid 50s, when she died. Only a single gene is the trigger of the disease. Only about half of the patients with early onset Alzheimer's are affected by this variant.

Alzheimer's is one of the biggest health problems of western industrialized nations today. In Germany alone, around 1.3 million people are currently suffering from Alzheimer's disease. As a result of demographic change, the incidence rate also increases from year to year. People are getting older and older age-related diseases are rising. „More than 100 million people with dementia are expected globally for the year 2050, with the majority suffering from Alzheimer's disease if an antidote is not found in time“, reminds the research team in a communication. (Sb)

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Image: Gerd Altmann, Pixelio.de