Autism Genetics and Cytogenetic Abnormalities
نویسندگان
چکیده
منابع مشابه
Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders: A Review
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, ...
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By SEnclo MANCINELLI, JOHN R. DURANT, AND WILLIAM J. HAMMACK T SOMEWHAT CONSISTENT cytogenic changes in patients with multiple myeloma have recently been reported. Houston et al.,’ using phytohemagglutinin (PHA) stimulated peripheral blood cells, observed abnormal chromosomes in fifteen of twenty-four patients. The abnormal chromosomes were as large or larger than normal A group members with ce...
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Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., "penetrance") of these genetic components is also highly variable, ranging from fully...
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Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensiv...
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9q34.13 (TSC1) Hamartin, a growth inhibitory protein that negatively regulates the mTOR pathway Tuberous Sclerosis type I. (Liver and neural tube defects. Die by E12. Abnormal kidney and liver growth in heterozygotes. Variable brain structure, function and behavior abnormalities in conditional mutants. Die at various postnatal ages. Neuronspecific loss causes abnormal spine morphology and corti...
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ژورنال
عنوان ژورنال: Trends in Molecular Sciences
سال: 2011
ISSN: 1994-5469
DOI: 10.3923/tms.2011.1.13