Copy Number Loss of SHC2 Gene in Multiple System Atrophy
Author Information
Author(s): Sasaki Hidenao, Emi Mitsuru, Iijima Hiroshi, Ito Noriko, Sato Hidenori, Yabe Ichiro, Kato Takeo, Utsumi Jun, Matsubara Kenichi
Primary Institution: Hokkaido University
Hypothesis
The genome of a patient with MSA would demonstrate copy number variations in the genes or genomic regions of interest.
Conclusion
Copy number loss of SHC2 strongly indicates a causal link to MSA.
Supporting Evidence
- Copy number loss of SHC2 was identified in the affected MZ twin and 10 of the 31 patients with MSA.
- The study utilized a combination of CNV beadchip and comparative genomic hybridization for analysis.
- The findings suggest that CNV analysis of discordant MZ twins is a powerful tool for identifying disease-predisposing loci.
Takeaway
Researchers found that a specific gene, SHC2, is often missing in people with a disease called multiple system atrophy, which might help us understand and treat the disease better.
Methodology
Whole-genome CNV analysis using CNV beadchip and comparative genomic hybridization followed by high-density custom-made oligonucleotide tiling microarray analysis.
Limitations
The study had a limited number of subjects.
Participant Demographics
33 unrelated patients with MSA, including a pair of monozygotic twins; mean age at onset was 58.1 years.
Statistical Information
P-Value
1.04 × 10-8
Statistical Significance
p < 1.0 × 10-8
Digital Object Identifier (DOI)
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