Montag, 12.10.2020

Lehre

Monogenic forms of Parkinson's disease

Genetic and environmental age-at-onset modifiers - Antrittsvorlesung von Dr. Joanne Trinh am 17. November um 18 Uhr s.t.

Die Antrittsvorlesung findet online statt. Zugang: uni-luebeck.webex.com/meet/joanne.trinh

Parkinson’s disease (PD) is a common neurodegenerative disorder characterized clinically by motor dysfunction and currently affecting over 10 million patients world-wide. Medications temporarily manage the symptoms of the disease but do not slow down or halt the disease progression and development of preventative therapies is limited by knowledge of the underlying biology as most dopamine neurons are lost prior to a clinical diagnosis. Symptoms manifest because of intrinsic genetic susceptibility and/or age-associated insults, with the failure of molecular compensation.

Multiple genes have been found to be implicated in familial and sporadic PD. In familial late-onset Lewy body PD, dominantly-inherited LRRK2 p.G2019S is the most common cause. On the other hand, PINK1 and Parkin mutations cause early-onset disease. Parkin loss of function may explain ~15% of early-onset cases and the majority with family history. Carriers of pathogenic mutations have vastly distinct clinical features, show age-dependent penetrance, and some even remain unaffected. Thus, investigation of molecular factors protective for onset age is critical to understanding endogenous protective factors.

In this inaugural lecture, monogenic forms of PD and factors influencing age-at-onset and reduced penetrance will be discussed.

Dr. Joanne Trinh schließt mit der Antrittsvorlesung ihre Habilitation im Fachgebiet Neurogenetik an der Universität zu Lübeck ab.