A special protein opens new therapeutic approaches - Heilpraxis

Newly discovered protein reveals early mechanisms of ALS

According to current medical knowledge, amyotrophic lateral sclerosis (ALS), a rare disease, is incurable. A discovery by a German-American research team could soon change that. The working group has identified a protein that could hold the key to new therapeutic approaches.

Researchers from the Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and the University of California, San Diego (UCSD) have discovered a protein that exhibits pathological properties even in the early stages of ALS nerve disease. The results of the study were recently presented in the journal Acta Neuropathologica.

Ice Bucket Challenge was designed to simulate the symptoms of ALS

The so-called 'Ice Bucket Challenge', in which millions of people poured buckets of ice water over their heads in the summer of 2014 and posted the recordings on social media, caught the world's attention. entire.

However, the context of the challenge was of a serious nature. The sudden coldness was intended to mimic the feeling of paralysis that people with ALS feel on a daily basis.

ALS cases in Germany

In Germany, there are between 6,000 and 8,000 patients with ALS. About 2,000 new cases are diagnosed each year. The neurological disease leads to the death of most of those affected within a few years.

How does ALS disease progress?

"ALS is a motor neuron disease, which means that the nerve cells that control human muscles are damaged," reports Professor Dr. Beate Winner of the study team.

"In the first phase there is muscle weakness, later muscle atrophy and at the end those affected are often no longer able to swallow and breathe independently," explains the professor.

Donations advance ALS research

The "Ice Bucket Challenge" was intended to raise donations to advance research into the rare nerve disease.

The latest study results from the German-American working group now show that such approaches can bear fruit. Scientists have discovered early disease mechanisms in ALS that provide hope for new therapies.

Protein changes in end-stage ALS

“It has been known for about 15 years that the protein TDP-43 becomes insoluble in neurons and clumps together in end-stage ALS,” says Winner. As a result, it loses its normal function and acquires toxic properties.

"We wanted to know if we could identify the causes of ALS at an early stage of development, before TDP-43 changed," says the lead researcher, explaining the intent of the study.

A new ALS mechanism revealed

Using mass spectrometry, the researchers were able to identify an RNA-binding protein called NOVA1 in the nerve cells of people with ALS.

"The protein showed significantly increased insolubility and other changes in neurons, but not yet the classic hallmarks of TDP-43 disease," adds Dr. Florian Krach. According to Krach, cells from a control group of people without ALS did not show these changes.

New insights into the early phase of ALS

In the laboratory of renowned RNA biologist and bioinformatician, Professor Gene Yeo of the University of California, San Diego (USA), the team was able to use specialized experiments and computer-assisted evaluation to discover which NOVA1 bonds form in RNA molecules and what influence it has on alternative splicing in human neurons.

"Alternative splicing is an extremely complex and sophisticated mechanism that humans use to multiply their protein repertoire," says Krach. According to him, sections of a messenger RNA molecule are either cut or added, inhibiting, expanding or completely changing the functions of proteins.

First step in early detection of ALS

Overall, the researchers involved hope that new findings about ALS will translate into early diagnostic options and new therapeutic approaches. "Our discovery is groundbreaking, but it's only a first step towards the possible early detection of ALS," says Winner.

"Further studies with larger cohorts could deepen our knowledge of the importance of RNA-binding proteins", summarizes the professor. (vb)

Author and source information

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This text corresponds to the specifications of the specialized medical literature, medical guidelines and current studies and has been verified by health professionals.


Graduate editor (FH) Volker Blasek


Florian Krach, Emily C. Wheeler, Beate Winner, et al. : Aberrant NOVA1 Function Disrupts Alternative Splicing in Early Stages of Amyotrophic Lateral Sclerosis: in: Acta Neuropathologica (2022), link.springer.com Friedrich-Alexander-Universität Erlangen-Nürnberg: ALS: Discovery of Early Mechanisms of the disease (published: 07/15/2022), fau.de

Important note:
This article contains general advice only and should not be used for self-diagnosis or treatment. It cannot substitute a visit to the doctor.