Thesis defence in the University of Oulu

Doctoral Candidate

MSc, MD Ari Siitonen

Faculty and research unit

University of Oulu Graduate School, Faculty of Medicine, Research Unit of Clinical Neuroscience
0294 480 000 (vaihde)

Field of study

Neurology

Date and time of the thesis defence

18.9.2020 12:00

Place of the thesis defence

Auditorium 8 of Oulu University Hospital (Kajaanintie 50), Zoom link: https://oulu.zoom.us/j/66165719805?pwd=aUtIcmJwZDlBZjFwU0xWTytwR3pLdz09

Topic of the dissertation

Genetics of Parkinson´s disease in Finland

Opponent

Research Professor Markus Perola, National Institute for Health and Welfare (THL)

Custos

Professor Kari Majamaa, University of Oulu

Heritability of Parkinson’s disease in Finland

One in a hundred persons has Parkinson’s disease (PD) at age of 60 years and older. PD is a neurodegenerative disease of the brain that has no curative treatment. Most of the forms of PD are considered to be developed as a consequence of several environmental and genetic factors. Recent studies suggest over 90 heritable risk factors that support this assumption.

In this thesis we studied the whole genome of about 400 PD patients and compared those to the genetic information of the population. Genetic information was obtained by using genome wide association study and exome sequencing methods. Established forms of PD that are caused by mutations in one gene does not seem to be frequent in Finland. However, study identified several novel mutations and genes that may associate to the risk of PD. Furthermore, genetic risk score including mutations in GBA and TTN genes was associated to the increased risk of PD.

In this thesis we also studied cell biological processes involved in PD. Some of the identified processes included phosphate metabolism, phosphorylation and organonitrogen compound metabolism. New discoveries in this study help to understand the genetic characteristics of PD in Finland and help the research community to understand the development of PD a bit better.

Dissertation

Last updated: 14.9.2020