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
-
Risk Factors for Myocardial Infarction in Women and Men: A Review of the Current Literature
Current Pharmaceutical Design Machine Learning Approaches in Parkinson’s Disease
Current Medicinal Chemistry Hypothesis-Driven Medication Discovery for the Treatment of Psychostimulant Addiction
Current Drug Abuse Reviews Acute Transient Psychoses and their Differentiation from Schizophrenia
Current Psychiatry Reviews Genetics of Cardiomyopathies: Novel Perspectives with Next Generation Sequencing
Current Pharmaceutical Design Epigenetic Regulation of Memory-Therapeutic Potential for Disorders
Current Neuropharmacology Unique Insights into the Actions of CNS Agents: Lessons from Studies of Chlorpyrifos and Other Common Pesticides
Central Nervous System Agents in Medicinal Chemistry Synthetic Lethality to Overcome Cancer Drug Resistance
Current Medicinal Chemistry Immunophilins: Structures, Mechanisms and Ligands
Current Molecular Pharmacology Pathophysiology of Cardiovascular Diseases and the Role of Vitamins, and Herbal Extracts in the Reduction of Cardiovascular Risks
Cardiovascular & Hematological Agents in Medicinal Chemistry Protein Structure Based Strategies for Antigen Discovery and Vaccine Development Against Malaria and Other Pathogens
Endocrine, Metabolic & Immune Disorders - Drug Targets Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations
Current Genomics De Novo DNMTs and DNA Methylation: Novel Insights into Disease Pathogenesis and Therapy from Epigenomics
Current Pharmaceutical Design Infectious Burden: A New Risk Factor and Treatment Target for Atherosclerosis
Infectious Disorders - Drug Targets Enzymatic Activity and Protein Interactions in Alpha/Beta Hydrolase Fold Proteins: Moonlighting Versus Promiscuity
Protein & Peptide Letters Rewiring the Heart: Stem Cell Therapy to Restore Normal Cardiac Excitability and Conduction
Current Stem Cell Research & Therapy Neuroimaging of the Serotonin Transporter: Possibilities and Pitfalls
Current Psychiatry Reviews Involvement of Cytosolic Phospholipase A2, Calcium Independent Phospholipase A2 and Plasmalogen Selective Phospholipase A2 in Neurodegenerative and Neuropsychiatric Conditions
Current Medicinal Chemistry Current Pharmacological Treatment of Nonalcoholic Fatty Liver
Current Medicinal Chemistry Actions of Rho-Kinase Inhibitors in Cardiovascular Diseases
Current Enzyme Inhibition