Lysosomal Storage Disorders And Parkinson S Disease

Gba mutations impair alpha synuclein clearance 3 and prompt a search for any relationship between pd and other lysosomal disorders lsds.

Lysosomal storage disorders and parkinson s disease. Lysosomal storage disorders and parkinson s disease. Gaucher disease and beyond. Jenkins 1 2 and anthony h. Mutations in the glucocerebrosidase gene gba cause autosomal recessive gaucher s disease.

ˌ l aɪ s ə ˈ s oʊ m əl are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. The connection between the gba gene and parkinson s disease pd was recently recognized. Parkinson s disease is associated with mutations in the glucocerebrosidase gene which result in the enzyme deficiency causing gaucher disease the most common lysosomal storage disorder. Lysosomal storage disorders shed light on lysosomal dysfunction in parkinson s disease by shani blumenreich 1 or b.

Lysosomal dysfunction has been implicated in multiple diseases including lysosomal storage disorders such as gaucher s disease in which loss of function mutations in the gba1 gene encoding the lysosomal hydrolase β glucocerebrosidase result in lipid substrate accumulation. Google scholar sidransky e. Parkinson s disease symptoms and signs can include tremor bradykinesia muscular. Parkinson s disease is the second most common neurodegenerative disorder of ageing affecting 1 of the population over 65 years old.

Futerman 1 y 1 department of biomolecular sciences. Lysosomal storage disorders shed light on lysosomal dysfunction in parkinson s disease shani blumenreich 1 or b. Barav 1 bethan j. Insights from a rare mendelian disorder.

Jenkins 1 2 and anthony h. Specialty lysosomal storage diseases lsds. Lysosomal storage disorders and parkinson s disease. In parkinson s disease.

Barav 1 bethan j.