Insaf Moudian

Conference 2024 Poster

Poster Title

Genetic Basis of Mitochondrial Cardiomyopathies

Authors and Affiliations

MOUDIAN Insaf ¹, BAKKACH Joaira ², ZIAN Zeineb ¹, GHAILANI NOUROUTI Naima ¹, BARAKAT Amina ¹, BENNANI MECHITA Mohcine¹

1. Inteligent Automation And Biomedgenomics Laboratory, Faculty Of Sciences And Techniques Of Tangier, Abdelmalek Essaadi University, Morocco
2. Institut Superieur des Professions Inférmieres et Techniques de Santé, Annexe Al Hociema – Tetouan, Maroc

Abstract

Background

Mitochondrial cardiomyopathies are rare specific myocardial conditions characterized
by abnormal myocardium structure and/or function, secondary to genetic defects
involving the mitochondrial respiratory chain, in the absence of concomitant coronary
artery disease, hypertension, valvular disease, or congenital heart disease.
Usual cardiomyopathies involve mutations in nuclear genes especially those
encoding for myocardium skeletal proteins such as the sarcomere genes. Whereas
mitochondrial cardiomyopathies are caused exclusively by mutations on genes
encoding for mitochondrial proteins.
In this review, we provide an overview of the current knowledge about mutations
implicated in mitochondrial cardiomyopathies involving both mitochondrial DNA (mt-
DNA) and nuclear DNA mitochondria related genes.

Methods

Literature from 2010 to 2022 was searched from Medline using the key words: mt-
DNA, mitochondrial cardiomyopathies, mutations. Other sources include books and
published abstracts. Only English literature was assessed.

Results

two distinct groups of mitochondrial cardiomyopathies exist: caused by mt-DNA or
occurring due to mutations on nuclear DNA mitochondria related genes. Hence
recent findings assume that most the causative mutations found in this disease are strongly related to mt-DNA. Those mutations concern especially primordial genes needed for the transduction of ARNt, genes encoding for electron chain transport proteins and in the D-loop zone where the activity of mitochondria is being controlled.

Conclusions

Further research is crucial in exploring the intricate genetic basis of mitochondrial
cardiomyopathy. The polymorphic feature of mtDNA and limited comprehension of its
correlation with nDNA necessitate comprehensive investigation to enhance our
understanding of mitochondrial cardiomyopathy.