ArticleCurrent genetic medicine reports2018
Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.
Article in Current genetic medicine reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Biallelic variants inResearch square · 2026Article
- Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders.FEBS letters · 2026Review
- Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm.Diabetes, obesity & metabolism · 2026Review
- Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (Biomedical reports · 2025Article
- Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up.Neurogenetics · 2025Article
- Protein Nitration in Patients with Mitochondrial Diseases.Antioxidants (Basel, Switzerland) · 2025Article
- A Review over Mitochondrial Diseases Due to mtDNA Mutations: Recent Advances and Remedial Aspects.Infectious disorders drug targets · 2025Review
- Preclinical models of mitochondrial dysfunction: mtDNA and nuclear-encoded regulators in diverse pathologies.Frontiers in aging · 2025Review
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.Translational pediatrics · 2024Review
- Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.Orphanet journal of rare diseases · 2024Article
- Metabolomic changes in children with autism.World journal of clinical pediatrics · 2024Article
- Evaluation of endpoints for the study and diagnosis of mitochondrial toxicity and disease: a narrative review.Mutagenesis · 2023Review
- Mitochondria dysfunction and bipolar disorder: From pathology to therapy.IBRO neuroscience reports · 2023Article
- Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing.Biomedicines · 2023Review
- Mitochondrial dysfunction reactivates α-fetoprotein expression that drives copper-dependent immunosuppression in mitochondrial disease models.The Journal of clinical investigation · 2023Article
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.Frontiers in genetics · 2023Article
- Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.Molecular genetics and metabolism · 2022Article
Corrections and comments
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Authors and funding
3 authors.
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Abstract
purpose of reviewPrimary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses. RECENT
findingsThe extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-based perspective is reviewed. Improved consensus on standards for mitochondrial disease patient care are being complemented by emerging therapies that target specific molecular subtypes of mitochondrial disease. Reproductive counseling options now include preimplantation genetic diagnosis at the time of in vitro fertilization for familial mutations in nuclear genes and some mtDNA disorders. Mitochondrial replacement technologies have promise for some mtDNA disorders, although practical and societal challenges remain to allow their further research analyses and clinical utilization. SUMMARY: A dramatic increase has occurred in recent years in the recognition, understanding, treatment options, and preventative strategies for primary mitochondrial disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.