OPA1 encodes OPA1 mitochondrial dynamin like GTPase (960 aa). Dynamin-related GTPase that is essential for normal mitochondrial morphology by mediating fusion of the mitochondrial inner membranes, regulating cristae morphology and maintaining respiratory chain function. Highest expression in Cells EBV-transformed lymphocytes (41.7 TPM) and Cells Cultured fibroblasts (33.7 TPM).

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) is associated with mutations in the OPA1 gene on chromosome 3.

The OPA1 protein participates in Cellular response to mitochondrial stress pathway.

OPA1 is classified as a druggable target (Enzyme and Transporter categories) with score 0.0.

Genetic testing for OPA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 9 common features.

No clinical trials have been registered for mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type).

33 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type). Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (27%), and Case Report / Case Series (12%).

Recent Publications

• Nieto-Bona MP (2026). [PMID: 41751363](https://pubmed.ncbi.nlm.nih.gov/41751363/). *Biomedicines*. [Review / Meta-Analysis]

• Menacho C (2026). [PMID: 42009687](https://pubmed.ncbi.nlm.nih.gov/42009687/). *Nat Commun*. [Diagnostic / Biomarker]

• Varga L (2026). [PMID: 41664274](https://pubmed.ncbi.nlm.nih.gov/41664274/). *Ear Hear*. [Diagnostic / Biomarker]

• Kleefeld F (2026). [PMID: 41639907](https://pubmed.ncbi.nlm.nih.gov/41639907/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]

• Xu J (2026). [PMID: 41559004](https://pubmed.ncbi.nlm.nih.gov/41559004/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]

• Damiano M (2026). [PMID: 41729327](https://pubmed.ncbi.nlm.nih.gov/41729327/). *J Neurol*. [Basic Science / Preclinical]

• Vettiatil D (2026). [PMID: 41662332](https://pubmed.ncbi.nlm.nih.gov/41662332/). *Dev Neurosci*. [Basic Science / Preclinical]

• Kawakita M (2026). [PMID: 41898875](https://pubmed.ncbi.nlm.nih.gov/41898875/). *Genes (Basel)*. [Epidemiology / Natural History]

• Luo J (2026). [PMID: 40767000](https://pubmed.ncbi.nlm.nih.gov/40767000/). *Cell Prolif*. [Basic Science / Preclinical]

• Wang H (2026). [PMID: 42230411](https://pubmed.ncbi.nlm.nih.gov/42230411/). *Funct Integr Genomics*. [Basic Science / Preclinical]