No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy

Keqin Xu; Linlin Wan; Zhao Chen; Chunrong Wang; Huirong Peng; Xuan Hou; Yuting Shi; Rong Qiu; Beisha Tang; Hong Jiang

doi:10.1016/j.neurobiolaging.2020.07.008

No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy

Neurobiol Aging. 2021 Jan:97:144.e5-144.e7. doi: 10.1016/j.neurobiolaging.2020.07.008. Epub 2020 Jul 15.

Authors

Keqin Xu¹, Linlin Wan¹, Zhao Chen², Chunrong Wang³, Huirong Peng¹, Xuan Hou¹, Yuting Shi¹, Rong Qiu⁴, Beisha Tang⁵, Hong Jiang⁶

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China.
³ Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
⁴ School of Computer Science and Engineering, Central South University, Changsha, Hunan, China.
⁵ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Laboratory of Medical Genetics, Central South University, Changsha, China.
⁶ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Laboratory of Medical Genetics, Central South University, Changsha, China. Electronic address: jianghong73868@126.com.

PMID: 32768149
DOI: 10.1016/j.neurobiolaging.2020.07.008

Abstract

Recent studies have identified an expanded GGC repeat in the 5' untranslated region of the NOTCH2NLC gene as a possible pathogenic genetic cause of neuronal intranuclear inclusion disease. Converging evidence verifying the presence of the same GGC repeat expansion in patients with Alzheimer's disease, Parkinson's disease, and other neurodegenerative diseases has also received increased attention. Inspired by some of the clinical similarities between neuronal intranuclear inclusion disease and multiple system atrophy (MSA), we used repeat-primed PCR to explore the occurrence of GGC repeats in 328 patients with MSA in mainland China. Our result failed to detect any GGC repeat expansion in these patients with MSA, indicating that the NOTCH2NLC gene may not be involved in the pathogenesis of MSA.

Keywords: GGC repeats; Multiple system atrophy; NOTCH2NLC; Neurodegenerative diseases; Repeat expansion.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
China
Female
Genetic Association Studies*
Humans
Intranuclear Inclusion Bodies / genetics
Male
Multiple System Atrophy / genetics*
Negative Results*
Neurodegenerative Diseases / genetics
Receptor, Notch2 / genetics*
Trinucleotide Repeat Expansion*

Substances

NOTCH2 protein, human
Receptor, Notch2

Supplementary concepts

Neuronal intranuclear inclusion disease