Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China
Abstract
The purpose of this study was to assess the frequency of optineurin (OPTN) mutation in amyotrophic lateral sclerosis (ALS) patients from mainland China, as well as to characterize the relationship between OPTN mutation and clinical phenotypes. We examined the coding region of OPTN in 511 unrelated Chinese sporadic ALS (SALS) subjects and 204 healthy controls using a PCR direct sequencing strategy. Nine OPTN variants were identified, of which four were novel missense mutations: c.407C > T (p.A136V), c.1184A > G (p.K395R), c.1352T > C (p.I451T), and c.1546G > C (p.E516Q) (all heterozygous). The remaining five variants were already present in single nucleotide polymorphism databases. Patients with OPTN mutations were characterized by spinal onset, although they showed differences in disease progression. In conclusion, this study provides a genetic epidemiological characterization of OPTN mutations in Chinese patients, and our results are consistent with the proposition that such mutations are common in Asian populations.
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Mitochondrial abnormalities, together with OPTN-positive inclusions and de novo OPTN mutations found in sALS, are suggestive of attenuated mitophagy.
“Such mitochondrial abnormalities, together with observations of OPTN-positive inclusions and de novo OPTN mutations found in sALS [286–289], are suggestive of attenuated mitophagy.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [287]
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- Authors
- Li, C., Ji, Y., Tang, L., Zhang, N., He, J., Ye, S., Liu, X., & Fan, D.
- Affiliations
- Peking University Third Hospital (CN)
- Corresponding author
- Fan, Dongsheng
- Venue
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Publisher
- Informa UK Limited
- Published
- 2015-10-26
- Volume
- 16
- Issue
- 7-8
- Pages
- 485-489
- ISSN
- 2167-8421 (ISSN-L)
- 2167-9223
- OpenAlex
- W1865484534
- Cited by
- 37
- References
- 22
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 3 · 2021: 1 · 2020: 6 · 2019: 7 · 2018: 7 · 2017: 5 · 2016: 3
- FWCI
- 3.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- optineurin, sporadic ALS, novel missense mutation, genetic epidemiology, spinal onset, disease progression, Chinese patients, Asian populations
- MeSH terms
- Adult, Amyotrophic Lateral Sclerosis, China, Female, Genotype, Heterozygote, Humans, Male, Middle Aged, Mutation, Case-Control Studies, Polymerase Chain Reaction, Cell Cycle Proteins, Genetic Predisposition to Disease, Mutation, Missense, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Transcription Factor TFIIIA, Asian People, Young Adult
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