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First diagnosed Alzheimer's case cleared up

First diagnosed Alzheimer's case cleared up

Scientists were able to finally clarify the first Alzheimer's case using DNA analysis

The degenerative disease Alzheimer's disease is named after the discoverer Alois Alzheimer. The doctor first diagnosed the disease in his patient Auguste D about 100 years ago. She went down in medical history as the first Alzheimer's case. In cooperation, German and Australian scientists have now analyzed the genetic material and identified a rare gene mutation.

First known Alzheimer's case
Auguste D. died in 1906 in a Frankfurt medical institution as a result of her illness. After the patient's death, Alois Alzheimer examined the brain. After the analysis, the doctor determined a new illness. To date, many details have not been clarified, which is why the first Alzheimer's case was finally clarified by a scientific team.

For the first time, researchers from the Institute of Human Genetics at the Justus Liebig University in Gießen, in collaboration with a scientist from the Brain Research Institute at the University of Sydney, Australia, have succeeded in molecular elucidation of the first known Alzheimer's case. The results were published in the renowned journal "The Lancet Neurology".

About 95 percent of those affected fell ill beyond the age of 65. Alzheimer's occurs in around 5 percent of people before their 65th birthday. 50 percent of the early variant has a genetic mutation of a single gene.

Alzheimer's DNA analyzed
"For years, researchers have speculated whether the first named Alzheimer's case Auguste D. suffered from this genetic disposition." Professor Ulrich Müller, Director of the Institute for Human Genetics at the University of Gießen, and his colleague Pia Winter, in collaboration with Professor Manuel Graeber, Neuropathologist at the Brain and Mind Research Institute at the University of Sydney, for the first time succeeded in isolating DNA material from histological brain slices made by Alois Alzheimer in 1906. Using this DNA, the scientists searched for mutations in one of the known genes mutated by EOAD. The researchers used this DNA to search for mutations. They found the so-called Presenilin 1 gene (PSEN1).

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

The first Alzheimer's patient suffered from a rare variant
It is therefore clear that Auguste D. suffered from a rare form of Alzheimer's. This assumption had previously been cherished since Auguste D. was only in her mid-50s when she died. Only one gene triggers the disease. Only about half of the patients with early onset Alzheimer's are affected by this variant.

Alzheimer's is one of the greatest health problems in western industrialized nations. In Germany alone, around 1.3 million people are currently suffering from Alzheimer's disease. Due to the demographic change, the disease rate increases from year to year. People are getting older and older diseases are increasing. "Globally, more than 100 million people with dementia are expected in 2050, most of whom will suffer from Alzheimer's disease if an antidote is not found in time," the research team warns in a message. (sb)

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Image: Gerd Altmann, Pixelio.de

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