Abstract
Mitochondrial Disorders (MD) include a heterogeneous group of inherited disorders due to molecular defects mainly affecting the mitochondrial oxidative phosphorylation system. Because the respiratory chain is under control of two different genomes (nuclear DNA-nDNA and mitochondrial DNA-mtDNA), mitochondrial genetics is quite complex and may justify the extreme clinical heterogeneity of these diseases. Clinically, MD usually involve multiple tissues, mainly affecting organs with high energy request as central nervous system and skeletal muscle. They may present at any age, with different onsets, clinical presentation and progression from an isolated involvement of vision or hearing to a multisystemic degenerative disorders with stroke-like episodes, peripheral neuropathy, ophthalmoparesis, seizures, cardiopathy, hepatopathy, endocrinopathies, etc. Over the last 50 years, it became evident that MD represent an important part of the general medicine. The complexity of clinical and genetic spectrum of those disorders is still increasing. The aim of this review is to walk through mitochondrial genetics, highlighting novel clinical entities.
Keywords: Adults, mitochondrial disorders, mtDNA, multisystem, myopathies.
Current Molecular Medicine
Title:Mitochondrial Disorders in Adults
Volume: 14 Issue: 8
Author(s): A. Toscano and O. Musumeci
Affiliation:
Keywords: Adults, mitochondrial disorders, mtDNA, multisystem, myopathies.
Abstract: Mitochondrial Disorders (MD) include a heterogeneous group of inherited disorders due to molecular defects mainly affecting the mitochondrial oxidative phosphorylation system. Because the respiratory chain is under control of two different genomes (nuclear DNA-nDNA and mitochondrial DNA-mtDNA), mitochondrial genetics is quite complex and may justify the extreme clinical heterogeneity of these diseases. Clinically, MD usually involve multiple tissues, mainly affecting organs with high energy request as central nervous system and skeletal muscle. They may present at any age, with different onsets, clinical presentation and progression from an isolated involvement of vision or hearing to a multisystemic degenerative disorders with stroke-like episodes, peripheral neuropathy, ophthalmoparesis, seizures, cardiopathy, hepatopathy, endocrinopathies, etc. Over the last 50 years, it became evident that MD represent an important part of the general medicine. The complexity of clinical and genetic spectrum of those disorders is still increasing. The aim of this review is to walk through mitochondrial genetics, highlighting novel clinical entities.
Export Options
About this article
Cite this article as:
Toscano A. and Musumeci O., Mitochondrial Disorders in Adults, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010152340
DOI https://dx.doi.org/10.2174/1566524014666141010152340 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
Call for Papers in Thematic Issues
Molecular and Cellular Mechanisms in Vertigo / Vestibular Disorders
Vertigo and vestibular diseases are common among middle-aged and older adults, significantly increasing the risk of falls and leading to injuries and disabilities. Despite their prevalence, therapeutic advancements are hindered by a limited understanding of the underlying molecular and cellular mechanisms. This Special Issue is dedicated to bridging this gap ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Highly Active Antiretroviral Therapy and Cardiovascular Complications in HIV-Infected Patients
Current Pharmaceutical Design Decreased Vascular Repair and Neovascularization with Ageing: Mechanisms and Clinical Relevance with an Emphasis on Hypoxia- Inducible Factor-1
Current Molecular Medicine Proteomic Analysis of Glucose-Induced Cardiac Myoblasts and the Potential Role of mir-92b-5p in Regulating Sarcomere Proteins Under a Hyperglycemic Environment
Protein & Peptide Letters Roles of Perilipins in Diseases and Cancers
Current Genomics Autophagy: For Better or for Worse, in Good Times or in Bad Times …
Current Molecular Medicine Regulatory Light Chains of Striated Muscle Myosin. Structure, Function and Malfunction
Current Drug Targets - Cardiovascular & Hematological Disorders Biological Therapies: Effects of Proinflammatory Pathways and their Inhibition on the Myocardium of Rheumatoid Athritis Patients
Current Medicinal Chemistry Current Algorithms for the Diagnosis of wide QRS Complex Tachycardias
Current Cardiology Reviews PDE5 Inhibitor Treatment Options for Urologic and Non-Urologic Indications: 2012 Update
Current Pharmaceutical Design Heart Failure Models: Traditional and Novel Therapy
Current Vascular Pharmacology Clozapine-induced Myocarditis: Pathophysiologic Mechanisms and Implications for Therapeutic Approaches
Current Molecular Pharmacology Neuroprotection by Resveratrol in Diabetic Neuropathy: Concepts & Mechanisms
Current Medicinal Chemistry Myocardial Energy Transport and Heart Failure
Current Cardiology Reviews Mitochondrial and Nuclear Genes of Mitochondrial Components in Cancer
Current Genomics Endoplasmic Reticulum Stress in Arterial Smooth Muscle Cells: A Novel Regulator of Vascular Disease
Current Cardiology Reviews MicroRNA Therapeutics: the Next Magic Bullet?
Mini-Reviews in Medicinal Chemistry The Role of Trimetazidine After Acute Myocardial Infarction
Current Vascular Pharmacology A Review on Hematopoietic Stem Cell Treatment for Epilepsy
CNS & Neurological Disorders - Drug Targets Antioxidant Capacities of Flavones and Benefits in Oxidative-Stress Related Diseases
Current Topics in Medicinal Chemistry S-nitrosation/Denitrosation in Cardiovascular Pathologies: Facts and Concepts for the Rational Design of S-nitrosothiols
Current Pharmaceutical Design