Genetic Insights into Diseases Related to Mitochondrial Dysfunction: From Diagnosis to Treatment
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 16 February 2026 | Viewed by 122
Special Issue Editors
Interests: human genomics; neurogenetics; sequencing technologies
Special Issue Information
Dear Colleagues,
Over the past few decades, genetic analyses have increasingly become a cornerstone in the clinical diagnosis of mitochondrial dysfunction-related diseases. From the early identification of mitochondrial DNA (mtDNA) mutations to the recent advances in next-generation sequencing (NGS) and other high-throughput techniques, these innovations have significantly improved diagnostic accuracy and patient management. Initial insights into mitochondrial genetics enabled the classification of rare mitochondrial disorders, helping clinicians understand inheritance patterns and recurrence risks. Today, cutting-edge molecular technologies, including genomic arrays, epigenetic analyses, and multi-omic approaches, support a more precise diagnosis and early intervention. The discovery of novel genetic etiologies for mitochondrial diseases is crucial for enhancing our understanding of disease mechanisms, improving genotype–phenotype correlations, and informing therapeutic development. This Special Issue, titled “Genetic Insights into Diseases Related to Mitochondrial Dysfunction: From Diagnosis to Treatment,” seeks to explore the genetic basis of mitochondrial dysfunction across a range of conditions. We welcome submissions that delve into novel diagnostic approaches, the role of mitochondrial genetics in disease progression, the application of omics technologies to clinical practice, and the development of potential therapeutic strategies, with a focus on precision medicine and targeted treatments.
Dr. Luigi Citrigno
Dr. Annamaria Cerantonio
Guest Editors
Manuscript Submission Information
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Keywords
- mitochondrial dysfunction
- mtDNA mutations
- genetic diagnosis
- next-generation sequencing
- neurodegeneration
- metabolic disorders
- mitochondrial therapeutics
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