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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Nucleosome Remodeling02:54

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Updated: Jun 26, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Nuclear and mitochondrial genome defects in autisms.

Moyra Smith1, M Anne Spence, Pamela Flodman

  • 1Department of Pediatrics, University of California-Irvine, Irvine, CA 92697, USA. dmsmith@uci.edu

Annals of the New York Academy of Sciences
|January 22, 2009
PubMed
Summary
This summary is machine-generated.

Altered gene dosage and mitochondrial DNA issues contribute to autism risk by affecting brain development and connections. Genomic imbalances in autism spectrum disorder highlight candidate genes and potential environmental influences.

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05:51

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Published on: June 15, 2011

Area of Science:

  • Neurogenetics
  • Autism Spectrum Disorders (ASD) Research
  • Mitochondrial Biology

Background:

  • Autism is linked to neurodevelopmental and neural connectivity issues.
  • Synaptic structure and function are critically affected by gene dosage and structure alterations.
  • Mitochondrial DNA alterations and abnormal mitochondrial function are implicated in autism.

Purpose of the Study:

  • To review evidence linking gene dosage/structure to neurodevelopment and autism risk.
  • To examine the role of nuclear and mitochondrial genome interactions in autism pathogenesis.
  • To present new microarray data on genomic imbalances in autism.

Main Methods:

  • Literature review of gene dosage, structure, neurodevelopment, and autism.
  • Analysis of mitochondrial DNA alterations and function in autism.
  • Affymetrix SNP 6.0 microarray analysis of DNA from autism subjects, parents, and twins.

Main Results:

  • Evidence suggests gene dosage and structure impact neurodevelopment and synaptic function, contributing to autism risk.
  • Nuclear and mitochondrial genome interactions may play a role in autism.
  • Microarray data indicate nuclear and mitochondrial genome imbalance in autism, identifying candidate genes, including those on X and Y chromosomes.

Conclusions:

  • Genomic imbalances, including mitochondrial and nuclear DNA alterations, are evident in autism spectrum disorder.
  • Further research into gene dosage, mitochondrial function, and environmental factors is crucial for understanding autism etiology.
  • Analyzing pathways and gene clusters will aid in identifying autism subtypes with specific genetic causes.