Oct 20, 2018

Two rare variants of the ANXA11 gene identified in Chinese patients with amyotrophic lateral sclerosis

Neurobiology of Aging
Xiangyi LiuDongsheng Fan

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. A recent study has identified mutations in the ANXA11 gene (encoding the calcium-binding protein annexin A11) associated with ALS. Mutation screening of ANXA11 protein-coding exons was performed in a Chinese cohort of 434 patients with sporadic ALS and 50 index patients with familial ALS. Polymerase chain reaction and Sanger sequencing were used for mutation detection. We failed to discover an N-terminal mutation, which was common in the Caucasian cohort. We revealed two rare heterozygous missense variants, c.878C>T (p.A293V) and c.921C>G (p.I307M), which are absent from the population databases and non-neurological controls. They are both located in the conserved annexin domain. The carriers of the mutation exhibited the classical ALS phenotype without cognitive impairment. Our results suggested that further functional studies for these variants are required to support the pathogenicity.

  • References
  • Citations1

References

  • We're still populating references for this paper, please check back later.
  • References
  • Citations1

Citations

Mentioned in this Paper

Annexin A11
Study
Conserved Sequence
Mice, Inbred BALB C
Exons
ExoN protein, human
Polymerase Chain Reaction Analysis
Amyotrophic Lateral Sclerosis
ANXA11 gene
Amyotrophic Lateral Sclerosis 1

Related Feeds

Brain Aging

Here is the latest research on intrinsic and extrinsic factors, as well as pathways and mechanisms that underlie aging in the central nervous system.

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

Alzheimer's Disease: Animal models

Alzheimer's disease is a chronic neurodegenerative disease which can be studied using various experimental systems. This feed focuses on animal models used for Alzheimer's disease research.