Abstract
Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood.
The major phenotypes presenting in infancy are here correlated with genetic defects and biochemical data with the aim to facilitate diagnosis work-up.
Keywords: Encephalomyocardiopathy, leigh disease, leukoencephalopathy, mitochondrial depletions syndromes, mitochondrial disorder in childhood, respiratory chain defects.
Current Molecular Medicine
Title:Mitochondrial Diseases in Childhood
Volume: 14 Issue: 8
Author(s): A. Ardissone, E. Lamantea, F. Invernizzi, M. Zeviani, S. Genitrini, I. Moroni and G. Uziel
Affiliation:
Keywords: Encephalomyocardiopathy, leigh disease, leukoencephalopathy, mitochondrial depletions syndromes, mitochondrial disorder in childhood, respiratory chain defects.
Abstract: Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood.
The major phenotypes presenting in infancy are here correlated with genetic defects and biochemical data with the aim to facilitate diagnosis work-up.
Export Options
About this article
Cite this article as:
Ardissone A., Lamantea E., Invernizzi F., Zeviani M., Genitrini S., Moroni I. and Uziel G., Mitochondrial Diseases in Childhood, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010155317
DOI https://dx.doi.org/10.2174/1566524014666141010155317 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- 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
-
WNT4 Signaling in Female Gonadal Development
Endocrine, Metabolic & Immune Disorders - Drug Targets Regulation of the PI3K-Akt Network: Current Status and a Promise for the Treatment of Human Diseases
Current Signal Transduction Therapy Immunotoxins in the Treatment of Hematologic Malignancies
Current Drug Targets Selective Removal of Macrophages in Atherosclerotic Plaques as a Pharmacological Approach for Plaque Stabilization: Benefits Vs. Potential Complications
Current Vascular Pharmacology Progress in the Development of Melanocortin Receptor Selective Ligands
Current Pharmaceutical Design Neurological Aspects of Medical Use of Cannabidiol
CNS & Neurological Disorders - Drug Targets Targeting of Adhesion Molecules as a Therapeutic Strategy in Multiple Myeloma
Current Cancer Drug Targets Potential Control of Multiple Sclerosis by Cannabis and the Endocannabinoid System
CNS & Neurological Disorders - Drug Targets Fluoroquinolones, the Cornerstone of Treatment of Drug-Resistant Tuberculosis: A Pharmacokinetic and Pharmacodynamic Approach
Current Pharmaceutical Design A Narrative Review on Dialectical Behavior Therapy for Patients with Depressive Difficulties
Current Psychiatry Research and Reviews Infectious Burden: A New Risk Factor and Treatment Target for Atherosclerosis
Infectious Disorders - Drug Targets 3, 5-Diiodothyronine: Biological Actions and Therapeutic Perspectives
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Novel Non-rodent Models of Kidney Disease
Current Molecular Medicine Highly Organized Nanostructures for Brain Drug Delivery - New Hope or Just a Fad?
CNS & Neurological Disorders - Drug Targets Advances in the Systemic Treatment of Neuroendocrine Tumors in the Era of Molecular Therapy
Anti-Cancer Agents in Medicinal Chemistry Frontiers for the Early Diagnosis of AD by Means of MRI Brain Imaging and Support Vector Machines
Current Alzheimer Research Defining Peptide Sequences: From Antigenicity to Immunogenicity Through Redundancy
Current Pharmacogenomics Opiates as Antidepressants
Current Pharmaceutical Design Hypothesis-Driven Medication Discovery for the Treatment of Psychostimulant Addiction
Current Drug Abuse Reviews Mesenteric Venous Thrombosis in Early Pregnancy
Current Women`s Health Reviews