Lysosomal Storage Disorders And Parkinson S Disease

Jenkins 1 2 and anthony h.

Lysosomal storage disorders and parkinson s disease.

Futerman 1 y 1 department of biomolecular sciences. 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. Parkinson s disease symptoms and signs can include tremor bradykinesia muscular. 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. Insights from a rare mendelian disorder. In parkinson s disease. Parkinson s disease the most common neurodegenerative movement disorder is characterized by the accumulation and aggregation of misfolded α synuclein that seem associated to some lysosomal disorders in particular.

Lysosomal storage disorders and parkinson s disease. 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. Parkinson s disease is the second most common neurodegenerative disorder of ageing affecting 1 of the population over 65 years old. Lysosomal storage disease micrograph of gaucher disease with cells that have the characteristic crumpled tissue paper like cytoplasm.

Gaucher disease and beyond tamar shachar msc department of biological chemistry weizmann institute of science rehovot israel search for more papers by this. Lysosomal storage disorders and parkinson s disease. Lysosomal storage disorders shed light on lysosomal dysfunction in parkinson s disease by shani blumenreich 1 or b. Lysosomal storage disorders shed light on lysosomal dysfunction in parkinson s disease shani blumenreich 1 or b.

Mutations in the glucocerebrosidase gene gba cause autosomal recessive gaucher s disease. Gba mutations impair alpha synuclein clearance 3 and prompt a search for any relationship between pd and other lysosomal disorders lsds. Specialty lysosomal storage diseases lsds. Jenkins 1 2 and anthony h.

Gaucher disease and beyond.