Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.3K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.9K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

BMJ open·2026
Same author

Integrative genomic characterization of the FADS1-2-3 mood disorder risk locus: implications for the role of polyunsaturated fatty acids.

Journal of affective disorders·2026
Same author

Caspase-4 transgenic mice exhibit cytoplasmic TDP-43 accumulation and age-dependent neuropathology.

Nature communications·2026
Same author

Reply to letter to editor "Clarifying exposure heterogeneity in a review of HERVs and neurodegenerative diseases".

Brain, behavior, and immunity·2026
Same author

Relationship between grip strength, functional outcome, and health-related quality of life measurements in amyotrophic lateral sclerosis patients.

Neurodegenerative disease management·2026
Same author

BDNF insufficiency exacerbates ALS progression.

Cell reports. Medicine·2026

Related Experiment Video

Updated: Apr 7, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

9.3K

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

Ji He1, Lu Tang2, Beben Benyamin3

  • 1Department of Neurology, Peking University Third Hospital, Beijing, China; Queensland Brain Institute, University of Queensland, St Lucia, Queensland, Australia; Translational Research Institute, University of Queensland Diamantina Institute, Woolloongabba, Queensland, Australia.

Neurobiology of Aging
|July 5, 2015
PubMed
Summary

The C9orf72 hexanucleotide repeat expansion (HRE) is linked to amyotrophic lateral sclerosis (ALS). This study found the HRE in Chinese ALS patients, with epigenetic changes suggesting distinct genetic pathways from Caucasian populations.

Keywords:
Amyotrophic lateral sclerosisC9orf72 geneChinese populationCpG methylationHexanucleotide repeat expansion

More Related Videos

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

7.2K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

3.2K

Related Experiment Videos

Last Updated: Apr 7, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

9.3K
Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

7.2K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

3.2K

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Epigenetics

Background:

  • The C9orf72 hexanucleotide repeat expansion (HRE) is the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) in Caucasian populations.
  • Understanding the role of C9orf72 variants in diverse ethnic groups is crucial for a comprehensive understanding of ALS.
  • Genetic and epigenetic factors influencing C9orf72 in Chinese ALS patients remain largely unexplored.

Purpose of the Study:

  • To investigate the prevalence and characteristics of C9orf72 genetic and epigenetic variants, including the HRE, in a Chinese ALS cohort.
  • To compare findings with those reported in Caucasian populations and assess potential shared or distinct pathogenic mechanisms.
  • To evaluate the association of specific C9orf72 haplotypes with repeat length instability and ALS risk in China.

Main Methods:

  • Fragment-length and repeat-primed PCR were used to quantify GGGGCC repeat copy number in 1092 sporadic ALS (sALS) patients and 1062 controls.
  • Haplotype analysis of 23 single-nucleotide polymorphisms (SNPs) within and surrounding the C9orf72 gene was performed.
  • CpG island methylation upstream of the repeat was analyzed in HRE-positive cases and controls.

Main Results:

  • The C9orf72 HRE was identified in 3 (0.3%) Chinese sALS patients, but not in controls (p = 0.25).
  • Two HRE-positive cases exhibited C9orf72 haplotypes inconsistent with the Caucasian-associated ALS haplotype and showed significant hypermethylation of the upstream CpG island (p < 10(-8)).
  • Both Caucasian and Chinese HRE-associated haplotypes were linked to repeat lengths >8, suggesting a role in repeat instability.

Conclusions:

  • The findings suggest that the C9orf72 HRE contributes to ALS in Chinese populations, potentially through mechanisms distinct from those observed in Caucasians, challenging a single founder event hypothesis.
  • Epigenetic modifications, specifically hypermethylation, may play a significant role in C9orf72-mediated ALS in certain individuals.
  • Both Caucasian and Chinese haplotypes associated with the C9orf72 HRE appear to confer instability, increasing the risk of repeat expansion and ALS development.