Gba N370S Heterozygous Neurons is an important cell type in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Description: Neurons carrying the GBA-N370S heterozygous mutation, associated with increased risk for Parkinson's disease and Lewy body dementia. [1]
The N370S (c.1448T>C, p.N370S) variant in the GBA gene is the most common pathogenic mutation among Gaucher disease patients and is also a significant genetic risk factor for Parkinson's disease (PD). Individuals carrying one copy of this mutation (heterozygous) have a 5-20-fold increased risk of developing PD compared to non-carriers. [2]
The N370S mutation results in: [3]
Neurons carrying GBA-N370S show:
GBA-N370S carriers show distinct biomarkers:
The study of Gba N370S Heterozygous Neurons has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.