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August 1, 2017Journal of Muscle Research and Cell MotilityOpen Access

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

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Key result

MYH7 alleles can be expressed equally or highly imbalanced at the mRNA and protein levels in both HCM patients and non-HCM donors, indicating intrinsic regulation contributes to allelic imbalance.

Authors

JMJudith MontagMSMandy SyringJRJ Rose

Discussion

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Overview

MYH7 allelic imbalance occurs in both HCM and non-HCM hearts; leaves open its contribution to disease expression.

Study Design

Type

Observational (n=21)

PICO

P
Population
Hypertrophic cardiomyopathy (n=21)
I
Intervention / Comparator
MYH7 missense mutations vs Non-HCM donors
O
Primary Outcome
Allelic imbalance of MYH7 mRNA and protein expression

Limitations

  • Cohort is not representative with regard to gender diversity
  • Small sample size

Cite This Study

Montag et al. (2017) conducted an observational in Hypertrophic cardiomyopathy (n=21). MYH7 missense mutations vs. Non-HCM donors was evaluated on Allelic imbalance of MYH7 mRNA and protein expression. MYH7 alleles can be expressed equally or highly imbalanced at the mRNA and protein levels in both HCM patients and non-HCM donors, indicating intrinsic regulation contributes to allelic imbalance.

synapsesocial.com/papers/6a160d45ec4058fde8c5bdcdhttps://doi.org/10.1007/s10974-017-9486-4
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy2024 · 8 citations
  2. 2Hypertrophic Cardiomyopathy Mutation <scp>R723G</scp> in <scp> <i>MYH7</i> </scp> Enhances Its <scp>mRNA</scp> ‐Stability2026
  3. 3Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy2018 · 53 citations
  4. 4Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy2020 · 12 citations
  5. 5Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy2011 · 63 citations