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PMID: 20801700 Published · ppublish English Journal Article Research Support, N.I.H., Intramural

Gaucher disease and parkinsonism, a molecular link theory.

Molecular genetics and metabolism ·Vol. 101 ·No. 4 ·2010-12-00 ·Pages 307-10

Goldin E

Abstract

Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosidase, or toxic side effects of glycosylated lipids accumulation were proposed to explain brain damage. Both hypotheses are not sufficient to explain the linkage. In order to develop a more inclusive theory we introduced into the model the prion theory and the second hit. Other possibilities are also brought into consideration.

MeSH Terms
Animals Gaucher Disease/enzymology,genetics Glucosylceramidase/genetics,metabolism Humans Mutation Parkinsonian Disorders/enzymology,genetics
Chemicals
Glucosylceramidase
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Goldin Ehud
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA. goldine@mail.nih.gov
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Article Info
Journal
Molecular genetics and metabolism
Abbr.
Mol Genet Metab
ISSN
1096-7206
DOI
10.1016/j.ymgme.2010.08.004
Email
goldine@mail.nih.gov
Published
2010-12-00
Epub
2010-00-10
Pages
307-10
Language
English
Region
United States
NLM ID
9805456
PMCID
PMC2991511
Subset
IM
Grants
Intramural NIH HHS · Z99 HG999999 · United States
External Links
PubMed source DOI: 10.1016/j.ymgme.2010.08.004 PMC Full Text View journal details
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