醫學遺傳學及基因體學每月研討會 ─ Genetics in Parkinsons Disease Implications in Pathogenesis and Future Treatment
林靜嫻 助理教授 (臺大醫院神經部主治醫師暨臨床助理教授)
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders with hallmarks of loss of dopaminergic neurons in the substantia nigra. The molecular mechanisms underlying neuronal degeneration in PD remain largely illusive, hampering the development of mechanism-based treatment. It is known that genetic factors contribute to the pathogenesis of PD and related disorders. There are 5-10 % of PD patients with clear family history, which show a classical recessive or dominant Mendelian mode of inheritance. During the past decade, identification of more than 10 causative genes linked to familial forms of PD has shed light on the pathogenesis of PD. Recent evidence demonstrated that these PD causative genes play important roles in cellular functions, such as mitochondrial functions, ubiquitin-proteasomal and lysosomal protein degradation system and membrane trafficking. Herein, we review recent progress in research concerning about the genes associated with familial PD. These concepts can be used to further understand disease pathophysiology and serve as a platform to develop future therapeutic strategies for PD.