First-pass extracted concept

MYOM1 loss-of-function in dilated cardiomyopathy

Candidate: concept label1 source documents6 linked claims

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Aliases

LoF MYOM1 variants, MYOM1 deficiency

Extracted Explainers

What the tool is doing

This paper presents MYOM1 loss-of-function as a disease-relevant determinant linked to dilated cardiomyopathy and heart failure. The abstract frames it as both a genetic association and a mechanistic driver of myocardial remodeling and excitation-contraction defects.

Source 1DOI PubMed

What problem it solves

It addresses the previously unclear pathogenic mechanism connecting MYOM1 deficiency to cardiomyopathy.

Source 1DOI PubMed

What it does not solve

The abstract does not resolve which specific MYOM1 variants, isoforms, or model systems account for the reported effects.

Source 1DOI PubMed

Alternatives

The abstract contrasts MYOM1-centered disease interpretation with downstream sarcoplasmic reticulum regulators such as RYR2 and SERCA2, but does not present an alternative tool or intervention.

Source 1DOI PubMed

Evidence Snippets

Leveraging the UK Biobank, we identified a significant association between dilated cardiomyopathy (DCM) and loss-of-function (LoF) MYOM1 variants.

Evidence 1Source 1DOI PubMedprovenance

Supporting Sources

Source 1primary paper2026MEDDOI PubMed

1 evidence snippet 6 linked claims Claim 1 Claim 2 Claim 3

Linked Claims

Claim 1assay findingsupports2026Source 1DOI PubMed

Calcium imaging showed impaired calcium conduction velocity and blunted intracellular calcium transients, consistent with sarcoplasmic reticulum dysfunction, in MYOM1 deficiency.

Quoted textsource-backed

Calcium imaging documented impaired calcium conduction velocity and blunted intracellular calcium transients, indicating sarcoplasmic reticulum dysfunction.

Claim 2assay findingsupports2026Source 1DOI PubMed

Optical mapping showed slowed ventricular conduction, increased conduction heterogeneity, and prolonged action potential duration and depolarization in the setting of MYOM1 deficiency.

Quoted textsource-backed

Optical mapping of cardiac electrophysiology revealed slowed ventricular conduction with increased heterogeneity, alongside marked prolongation of action potential duration and depolarization.

Claim 3disease mechanismsupports2026Source 1DOI PubMed

Loss of MYOM1 contributes to dilated cardiomyopathy and heart failure by disrupting sarcomere integrity and destabilizing sarcoplasmic reticulum calcium homeostasis, with secondary mitochondrial abnormalities.

Quoted textsource-backed

LoF of MYOM1 contributes to DCM and heart failure by disrupting sarcomere integrity and destabilizing sarcoplasmic reticulum calcium homeostasis, with secondary mitochondrial abnormalities.

Claim 4disease mechanismsupports2026Source 1DOI PubMed

MYOM1 deficiency precipitates dilated cardiomyopathy with overt heart failure and is accompanied by sarcomeric disorganization, structural remodeling, and mitochondrial abnormalities.

Quoted textsource-backed

Functional studies showed that MYOM1 deficiency precipitates DCM with overt heart failure, accompanied by sarcomeric disorganization, pathological structural remodeling, and mitochondrial abnormalities.

Claim 5genetic associationsupports2026Source 1DOI PubMed

Loss-of-function MYOM1 variants are significantly associated with dilated cardiomyopathy in UK Biobank data.

Quoted textsource-backed

Leveraging the UK Biobank, we identified a significant association between dilated cardiomyopathy (DCM) and loss-of-function (LoF) MYOM1 variants.

Claim 6molecular changesupports2026Source 1DOI PubMed

Transcriptomic and immunoblot analyses showed downregulation of sarcoplasmic reticulum regulators including RYR2 and SERCA2 in MYOM1 deficiency.

Quoted textsource-backed

At the molecular level, transcriptomic and immunoblot analyses demonstrated downregulation of key sarcoplasmic reticulum regulators, including RYR2 and SERCA2.