Abstract
We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, decreased quantity or mutations of mtDNA producing defects in biochemical reactions within the mitochondria. A subset of individuals with ASD manifests copy number variation or small DNA deletions/duplications, but fewer than 20 percent are diagnosed with a single gene condition such as fragile X syndrome. The remaining individuals with ASD have chromosomal abnormalities (e.g., 15q11-q13 duplications), other genetic or multigenic causes or epigenetic defects. Next generation DNA sequencing techniques will enable better characterization of genetic and molecular anomalies in ASD, including defects in the mitochondrial genome particularly in younger children.
Keywords: Autism spectrum disorders (ASD), mitochondrial DNA (mtDNA) mutations and depletion, oxidative stress, nuclear genes, lactate/pyruvate ratios, genetic causation, copy number variation, Heteroplasmy, nucleotide polymorphisms, fragile X syndromes
Current Genomics
Title: Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review
Volume: 12 Issue: 5
Author(s): Sukhbir Dhillon, Jessica A. Hellings and Merlin G. Butler
Affiliation:
Keywords: Autism spectrum disorders (ASD), mitochondrial DNA (mtDNA) mutations and depletion, oxidative stress, nuclear genes, lactate/pyruvate ratios, genetic causation, copy number variation, Heteroplasmy, nucleotide polymorphisms, fragile X syndromes
Abstract: We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, decreased quantity or mutations of mtDNA producing defects in biochemical reactions within the mitochondria. A subset of individuals with ASD manifests copy number variation or small DNA deletions/duplications, but fewer than 20 percent are diagnosed with a single gene condition such as fragile X syndrome. The remaining individuals with ASD have chromosomal abnormalities (e.g., 15q11-q13 duplications), other genetic or multigenic causes or epigenetic defects. Next generation DNA sequencing techniques will enable better characterization of genetic and molecular anomalies in ASD, including defects in the mitochondrial genome particularly in younger children.
Export Options
About this article
Cite this article as:
Dhillon Sukhbir, A. Hellings Jessica and G. Butler Merlin, Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review, Current Genomics 2011; 12 (5) . https://dx.doi.org/10.2174/138920211796429745
DOI https://dx.doi.org/10.2174/138920211796429745 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...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
- Announcements
Related Articles
-
An Update on Clinical Drug Interactions with the Herbal Antidepressant St. Johns wort
Current Drug Metabolism Recent Developments of the PET Imaging Agents for Metabotropic Glutamate Receptor Subtype 5
Current Topics in Medicinal Chemistry Anticonvulsant Activity of New GABA Prodrugs
Medicinal Chemistry Intracerebrally Applied Botulinum Neurotoxin in Experimental Neuroscience
Current Pharmaceutical Biotechnology AMPA Receptor Antagonists with Additional Mechanisms of Action: New Opportunities for Neuroprotective Drugs?
Current Pharmaceutical Design 5-HT2C Receptor Agonists as Potential Drugs for the Treatment of Obesity
Current Topics in Medicinal Chemistry Neuroinflammation and Immunity: A New Pharmacological Target in Depression
CNS & Neurological Disorders - Drug Targets Serum Insulin Degrading Enzyme Level and Other Factors in Type 2 Diabetic Patients with Mild Cognitive Impairment
Current Alzheimer Research Novel Pharmacological Targets From Indian Cone Snails
Mini-Reviews in Medicinal Chemistry Identification of Novel NaV1.7 Antagonists Using High Throughput Screening Platforms
Combinatorial Chemistry & High Throughput Screening Antiviral Medication in Sexually Transmitted Diseases. Part III: Hepatitis B, Hepatitis C
Mini-Reviews in Medicinal Chemistry Editorial
Current Pediatric Reviews Meet Our Editorial Board Member:
Current Neuropharmacology Potential Interaction Between Valproic Acid and Doripenem
Current Drug Safety Adenosine and the Auditory System
Current Neuropharmacology Hepatoprotective Effects and Antioxidant Potential of Polyherbal Formulation Against CCl4- Induced Hepatic Injury in Albino Rats
Current Traditional Medicine Synthesis and Evaluation of Anticonvulsant Activities of Pyrazol yl Semicarbazones. Part II
Letters in Drug Design & Discovery Depot Based Drug Delivery System for the Management of Depression
Current Drug Delivery The α2δ Subunit and Absence Epilepsy: Beyond Calcium Channels?
Current Neuropharmacology Flavonoids as Natural Inhibitors of Jack Bean Urease Enzyme
Letters in Drug Design & Discovery