Tracing the Causes of Shaking Palsy - Page 2
Nerven_Parkinson_Seite_2.jpg
Toxic protein deposits in
Parkinson's afflicted brain.

A defective alpha-synuclein, or an unstable DJ1 – if Parkinson’s is caused by individual, defective genes, the cause of illness can be detected relatively swiftly. However, these hereditary forms of shaking palsy only account for about 15 percent of all cases of Parkinson’s.

"The disease is only occasionally caused by a defect in one single gene," said Professor Thomas Gasser . "Parkinson’s disease usually occurs sporadically and only affects one family member. Whether or not mutations of the DNA are involved is not known so far."

The onset of the disease could potentially be caused by a very complicated combination of gene variants and environmental influences. This is exactly what Professor Gasser and other researchers at the National Genome Research Network want to examine now. Also in this so-called “sporadic” form of Parkinson’s, the scientists are looking into the alpha-synuclein gene in great detail – successfully, as it turns out, because apparently there are certain combinations of small mutations in the alpha-synuclein. Some of these combinations appear with greater frequency in Parkinson patients than in healthy individuals.

Even if these combinations of genetic mutations are not as evident in destroying the alpha-synuclein’s function as is the hereditary form of Parkinson’s disease, perhaps they still impair the effectiveness of the alpha-synuclein gene in some form or other and thus increase the risk of falling ill with Parkinson’s.

First test results from brain tissue samples indicate that there are indeed different kinds of alpha-synuclein proteins, so-called “splice variants”.


Websites of scientists involved in this NGFN project:


  Further reading:

 
 
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