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Acta Neurol Scand. 2015 Aug;132(2):73-8. doi: 10.1111/ane.12397. Epub 2015 Mar 13.

The EIF4G1 gene and Parkinson's disease.

Author information

1
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
2
Department of Clinical Laboratory, the Third Xiangya Hospital, Central South University, Changsha, China.
3
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

Abstract

Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the ability of cells to rapidly and dynamically respond to stress, thus probably participating in the development of PD, and these indicated that EIF4G1 variants may play an important role in pathogenicity of PD, although the frequency is low. Further studies involving large sample size of patients with PD from diverse populations, as well as studies of EIF4G1 expression and in scaffold function, are warranted.

KEYWORDS:

EIF4G1; Parkinson's disease; genetics; mutation; variant

PMID:
25765080
DOI:
10.1111/ane.12397
[Indexed for MEDLINE]

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