ReviewInternational journal of molecular sciences2015
Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.
Review in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.Frontiers in pharmacology · 2025Article
- Transcriptomic Profiling Reveals Altered Expression of Genes Involved in Metabolic and Immune Processes in NDV-Infected Chicken Embryos.Metabolites · 2024Article
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- Case Report: Rare HomozygousFrontiers in genetics · 2022Article
- Therapy Prospects for Mitochondrial DNA Maintenance Disorders.International journal of molecular sciences · 2021Review
- Disturbance of Mitochondrial Dynamics and Mitochondrial Therapies in Atherosclerosis.Life (Basel, Switzerland) · 2021Review
- Novel Insights and Current Evidence for Mechanisms of Atherosclerosis: Mitochondrial Dynamics as a Potential Therapeutic Target.Frontiers in cell and developmental biology · 2021Review
- Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.Genes · 2020Article
- Article
- Novel mutations in DNA2 associated with myopathy and mtDNA instability.Annals of clinical and translational neurology · 2019Article
- Marek's Disease Virus Infection Induced Mitochondria Changes in Chickens.International journal of molecular sciences · 2019Article
- Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.Frontiers in neurology · 2019Article
- POLG-related disorders and their neurological manifestations.Nature reviews. Neurology · 2019Review
- Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Journal of applied genetics · 2018Review
- Mitochondria in Ageing and Diseases: The Super Trouper of the Cell.International journal of molecular sciences · 2016Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Replication and maintenance of mtDNA entirely relies on a set of proteins encoded by the nuclear genome, which include members of the core replicative machinery, proteins involved in the homeostasis of mitochondrial dNTPs pools or deputed to the control of mitochondrial dynamics and morphology. Mutations in their coding genes have been observed in familial and sporadic forms of pediatric and adult-onset clinical phenotypes featuring mtDNA instability. The list of defects involved in these disorders has recently expanded, including mutations in the exo-/endo-nuclease flap-processing proteins MGME1 and DNA2, supporting the notion that an enzymatic DNA repair system actively takes place in mitochondria. The results obtained in the last few years acknowledge the contribution of next-generation sequencing methods in the identification of new disease loci in small groups of patients and even single probands. Although heterogeneous, these genes can be conveniently classified according to the pathway to which they belong. The definition of the molecular and biochemical features of these pathways might be helpful for fundamental knowledge of these disorders, to accelerate genetic diagnosis of patients and the development of rational therapies. In this review, we discuss the molecular findings disclosed in adult patients with muscle pathology hallmarked by mtDNA instability.
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