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Animal Mitochondrial Genetics

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...

Autism Spectrum Disorder

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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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...

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Related Experiment Video

Updated: Jun 9, 2026

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

Autism and mitochondrial disease.

Richard H Haas¹

¹Department of Neurosciences, UCSD Mitochondrial and Metabolic Disease Center, University of California-San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA. rhaas@ucsd.edu

Developmental Disabilities Research Reviews

|September 7, 2010

Summary

Autism spectrum disorder (ASD) and mitochondrial disorders are increasingly recognized. Evidence suggests mitochondrial dysfunction is common in ASD, with some cases showing primary mitochondrial disease.

Area of Science:

Neurodevelopmental Disorders
Mitochondrial Biology

Background:

Autism spectrum disorder (ASD) incidence and prevalence are rising.
Mitochondrial disorders are also increasingly recognized.
Clinical, genetic, and biochemical evidence suggests a link between ASD and mitochondrial dysfunction.

Purpose of the Study:

To review the evidence linking autism and mitochondria.
To explore the prevalence of mitochondrial dysfunction in ASD.
To examine cases of ASD phenotypes with primary mitochondrial disease.

Main Methods:

Literature review of clinical, genetic, and biochemical data.
Analysis of studies examining mitochondrial function in ASD.
Case study review of individuals with ASD and primary mitochondrial disease.

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Related Experiment Videos

Last Updated: Jun 9, 2026

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Main Results:

Accumulating evidence indicates mitochondrial dysfunction is more common in ASD than previously thought.
Some individuals with ASD phenotypes present with clear genetic-based primary mitochondrial disease.
The overlap between ASD and mitochondrial disorders is significant.

Conclusions:

Mitochondrial dysfunction is a notable factor in some cases of autism spectrum disorder.
Further research into the role of mitochondria in ASD is warranted.
Identifying primary mitochondrial disease in ASD may inform treatment strategies.