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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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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.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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ATP Synthase: Mechanism01:48

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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...
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Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

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The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
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Mitochondrial Membranes01:45

Mitochondrial Membranes

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A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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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...
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Mitochondria01:37

Mitochondria

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Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
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Updated: Oct 27, 2025

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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Mitochondrial dysfunction: A hidden trigger of autism?

Vellingiri Balachandar1, Kamarajan Rajagopalan1, Kaavya Jayaramayya2

  • 1Human Molecular Genetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu 641046, India.

Genes & Diseases
|July 22, 2021
PubMed
Summary
This summary is machine-generated.

Mitochondrial dysfunction, including oxidative stress and mtDNA variations, is increasingly linked to autism spectrum disorder (ASD). Further research, especially in diverse populations like India, is crucial for understanding ASD

Keywords:
AutismCopy number variation (CNV)Mitochondria encoded genesNeurodevelopmental disorderWorld-wide scenario

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Area of Science:

  • Neurodevelopmental Disorders
  • Cellular Biology
  • Genetics

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with unknown precise etiology.
  • Cognitive deficits in ASD have environmental and genetic influences, suggesting a fundamental cellular basis.
  • Mitochondria, involved in metabolism and cellular processes, are implicated due to their unique genetic and developmental roles.

Purpose of the Study:

  • To review the global and Indian research landscape on autism.
  • To explore the link between mitochondrial dysfunction and ASD.
  • To discuss potential therapeutic strategies targeting mitochondrial abnormalities in ASD.

Main Methods:

  • Literature review of global and Indian studies on autism.
  • Analysis of research linking mitochondrial dysfunction (oxidative stress, ROS, mtDNA variations) to ASD.
  • Synthesis of findings on therapeutic approaches for mitochondrial dysfunction in ASD.

Main Results:

  • Mitochondrial abnormalities such as oxidative stress, reactive oxygen species (ROS) production, and mtDNA copy number variations are associated with ASD.
  • Research on mitochondrial dysfunction in ASD is minimal, particularly in India.
  • India's genetic diversity offers potential for significant contributions to autism research.

Conclusions:

  • Mitochondrial dysfunction is a potential key factor in ASD pathogenesis.
  • Increased research on mitochondrial aspects of ASD is vital for a comprehensive understanding beyond genetics.
  • Targeting mitochondrial pathways may offer novel therapeutic avenues for ASD.