The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer - PubMed
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- #GBA1
- #Cancer
- #Neurological Disorders
- The GBA1 gene encodes glucocerebrosidase, crucial for lysosomal degradation of glucosylceramide.
- Biallelic GBA1 mutations cause Gaucher disease, while monoallelic or biallelic mutations increase Parkinson's disease risk.
- GBA1 mutations affect multiple pathways, including lipid homeostasis, autophagy, and mitophagy.
- Gaucher disease is linked to an increased risk of cancer development.
- Amplification of chromosome 1's long arm, which includes GBA1, is common in various cancers.
- Elevated GBA1 expression in cancer tissues is associated with patient outcomes in some cases.
- Germline mutations or somatic amplifications of GBA1 may influence cancer pathogenesis and therapy response.