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
-
An Insight into Molecular Mechanisms and Novel Therapeutic Approaches in Epileptogenesis
CNS & Neurological Disorders - Drug Targets Vaccine Therapy Update for Pregnant, Immunocompromised, and Chronic Diseases Patients
Recent Patents on Inflammation & Allergy Drug Discovery Modelling the Impact of Antiretroviral Therapy on the Epidemic of HIV
Current HIV Research Pharmacophores for Ligand Recognition and Activation / Inactivation of the Cannabinoid Receptors
Current Pharmaceutical Design A Review on Hematopoietic Stem Cell Treatment for Epilepsy
CNS & Neurological Disorders - Drug Targets A Helping Hand for the Good Guy; Novel Pharmacological Approaches for Augmenting the Cardiovascular Benefits of High Density Lipoproteins
Current Medicinal Chemistry From Physiome to Pathome: A Systems Biology Model of Major Depressive Disorder and the Psycho-Immune-Neuroendocrine Network
Current Psychiatry Reviews Ofatumumab: A Novel Anti-CD20 Monoclonal Antibody for the Treatment of Chronic Lymphocytic Leukemia
Current Drug Therapy A Narrative Review on Dialectical Behavior Therapy for Patients with Depressive Difficulties
Current Psychiatry Research and Reviews Modified LDL Immune Complexes and Cardiovascular Disease
Current Medicinal Chemistry Ventilatory Support in Persistent Pulmonary Hypertension of the Newborn
Current Respiratory Medicine Reviews Fetal Protein Restriction, Taurine and Islet Plasticity
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) The Role of Catecholamines in Formation and Resolution of Pulmonary Oedema
Cardiovascular & Hematological Disorders-Drug Targets Who’s the Leader, Mania or Depression? Predominant Polarity and Alcohol/Polysubstance Use in Bipolar Disorders
Current Neuropharmacology Antiangiogenic Therapy in Malignant Glioma: Promise and Challenge
Current Pharmaceutical Design Obesity and Cardiovascular Physiology: Impact of some Pharmacological Agents
Current Vascular Pharmacology Phytocannabinoids and Cannabimimetic Drugs: Recent Patents in Central Nervous System Disorders
Recent Patents on CNS Drug Discovery (Discontinued) Neuroactive Molecules in the Brains of Nonhuman Primates and Their Therapeutic Application to Neurodegenerative Disorders
Central Nervous System Agents in Medicinal Chemistry Mutations of mtDNA in some Vascular and Metabolic Diseases
Current Pharmaceutical Design Aldose Reductase Enzyme and its Implication to Major Health Problems of the 21st Century
Current Medicinal Chemistry