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Putative role of TMEM165 in congenital cardiomyopathies

Paula P Gonçalves1

  • 1CESAM - Centre for Environmental and Marine Studies, Department of Biology, University of Aveiro, Aveiro, Portugal.

Frontiers in Molecular Neuroscience
|January 26, 2026
PubMed

Insights

Congenital cardiomyopathies, a major cause of death, often have genetic origins. Prompt genetic testing for human transmembrane protein 165 (HsTMEM165) variants can guide therapy and identify related conditions.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Congenital heart diseases are significant global causes of mortality and morbidity.
  • Early diagnosis and care for congenital cardiomyopathies improve patient survival and health outcomes.
  • Genetic factors are frequently implicated in cardiomyopathies, necessitating genetic testing for diagnosis and management.

Purpose of the Study:

  • To review recent advancements in basic and clinical research concerning TMEM165.
  • To focus on the pathogenicity of human transmembrane protein 165 (HsTMEM165) variants.
  • To explore the potential role of HsTMEM165 in congenital cardiomyopathies.

Main Methods:

  • Review of current scientific literature on TMEM165 and Congenital Disorders of Glycosylation (CDG).
  • Analysis of the impact of amino acid variations on TMEM165 structure and function.
  • Correlation of HsTMEM165 mutations with CDG phenotypes.

Main Results:

  • Congenital Disorders of Glycosylation (CDG) are inherited multisystem disorders resulting from glycosylation defects.
  • Hypertrophic/dilated cardiomyopathy and neuromuscular issues are common in CDG.
  • Mutations in the HsTMEM165 gene are linked to CDG, highlighting the importance of amino acid integrity for protein function.

Conclusions:

  • Genetic diagnosis in cardiomyopathy aids in selecting therapies and detecting comorbidities.
  • HsTMEM165 variants are associated with CDG phenotypes, including cardiac and neuromuscular abnormalities.
  • Further research into HsTMEM165 is crucial for understanding its role in congenital cardiomyopathies.

Keywords:
Ca2+/H + antiportTMEM165 (human transmembrane protein 165)cardiomyocytescongenital cardiomyopathiesdisorders of glycosylationheart

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