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In Parkinson’s patients with a PARK8 mutation, the scientists from NGFN found particularly diverse symptoms. For example, the composition of the toxic protein deposits that kill nerve cells in the midbrain is different in each case.
The clinical symptoms are inconsistent, too. Aside from the typical symptoms of a patient with Parkinson’s, there are also other symptoms in some cases such as shaking, stiffness of the body and a ducked posture, dementia and/or diminishing of the skeletal muscle mass.
It is possible that each of the five PARK8 variants which cause the disease contributes to the development of the disease in a different way. Most likely, this happens in combination with other disease genes.
The goal of the researchers now is to elucidate the functions of the PARK8 gene in order to find an approach for a therapy. The protein whose blueprint is coded by PARK8 could potentially play an important role in the communication within brain cells. It is similar to other proteins that transfer signals to their protein partners by attaching a phosphate residue to them.
Especially with Parkinson’s disease, it is important to learn more about the cause and development of this affliction," Professor Gasser said. “There are two reasons for this: first, approximately 300,000 people in all are afflicted in Germany, and second, as yet there is no medication that is able to combat the cause of this disease. All drugs that are currently available only alleviate the symptoms."
Website of scientists involved in this NGFN project
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