LMNA Gene and Laminopathy Disease Development
Author Information
Author(s): Rodríguez Sofía, Eriksson Maria, Veitia Reiner Albert
Primary Institution: Karolinska Institutet
Hypothesis
The existence of high and low expressing alleles in the LMNA locus contributes to phenotypic variability in laminopathies.
Conclusion
The study confirmed that the C allele of the LMNA gene is more frequently expressed, accounting for approximately 70% of the total lamin A and lamin C transcripts.
Supporting Evidence
- The C allele accounts for approximately 70% of the total lamin A and lamin C transcripts.
- The study developed an allele-specific absolute quantification method for the LMNA gene.
- Differential expression of the two alleles was observed in the study.
- The method can be useful for further studies on laminopathies.
Takeaway
This study looked at a gene that can cause different diseases and found that one version of the gene is used more often than another, which might help explain why some people get sicker than others.
Methodology
The study used allele-specific absolute quantification methods with real-time RT-PCR technology to measure transcript levels in human primary dermal fibroblast cultures.
Limitations
The study did not provide detailed information about the development of the clinical phenotype in the patients.
Participant Demographics
The study included 11 primary dermal fibroblast cultures from 8 different individuals, including 4 patients with Hutchinson-Gilford progeria syndrome and 4 unaffected controls.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
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