Genetic Risk Factors of Parkinson's disease

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Dokumentart: Dissertation
Date: 2018
Language: English
Faculty: 4 Medizinische Fakultät
Department: Medizin
Advisor: Sharma, Manu
Day of Oral Examination: 2018-03-21
DDC Classifikation: 610 - Medicine and health
Keywords: Epidemiologe
Other Keywords:
Parkinson's disease
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The discovery of new genetic risk factors through a range of methods over the years has resulted in a long list of genetic variants that influence PD risk. The incompleteness of the inheritance patterns and the limited ability (up to 10%) of the genetic variants to explain PD cases suggests complex and multifactorial origins for PD. The first part of the thesis addresses the etiological factor of protein aggregation through the question of cross-disease effect of ataxia genes on PD risk. The second part of the thesis takes the theme of aggregration but approaches it from the transportation pathways. Given the known functional interaction between two genes in the retromer pathway, we investigated a possible genetic interaction between the two previously identified risk modulating loci, PARK16 and LRRK2. Immune response and mitochondrial dysfunction drive the third part of the thesis; we investigated the differences in clinical outcomes between type 1 diabetic patients with PD and neurologically normal patients. Firstly, we conclude that SCA2,3,6 and 17 do not impact PD risk. Secondly, we demonstrated that LRRK2 and PARK16 do not interact on a statistically significant level. Thirdly, we showed a series of notable differences in the disease progression between PD patients and neurologically normal TD1 patients.

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