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Related Concept Videos

Animal Mitochondrial Genetics02:59

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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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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
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The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria.  In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
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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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Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death.  Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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Mitochondrial ataxias.

Hilary J Vernon1, Laurence A Bindoff2

  • 1McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

Handbook of Clinical Neurology
|June 13, 2018
PubMed
Summary
This summary is machine-generated.

Mitochondrial diseases frequently cause ataxia, often alongside other neurological issues like epilepsy. This review focuses on mitochondrial ataxias, detailing their clinical aspects and genetic origins.

Keywords:
cerebellumelectron transport chainheteroplasmymitochondriaoxidative phosphorylation

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Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Biology

Background:

  • Ataxia is a common symptom of mitochondrial disease.
  • Mitochondrial ataxias often present as part of broader syndromic disorders, frequently involving epilepsy.
  • These ataxias can stem from cerebellar dysfunction, impaired proprioception (sensory ataxia), or both (spinocerebellar ataxia).

Purpose of the Study:

  • To review mitochondrial disorders where ataxia is a primary and consistent feature.
  • To focus on the clinical manifestations and genetic underpinnings of these conditions.
  • To provide a comprehensive overview for researchers and clinicians.

Main Methods:

  • Literature review of mitochondrial disorders with prominent ataxia.
  • Analysis of clinical features and associated neurological and systemic involvement.
  • Compilation of known genetic causes linked to mitochondrial ataxias.

Main Results:

  • Mitochondrial ataxias lack unique diagnostic features but often co-occur with multi-system involvement.
  • Common presentations include cerebellar and/or sensory ataxia, frequently with epilepsy.
  • A growing number of genetic mutations are identified as causes.

Conclusions:

  • Ataxia is a significant neurological symptom in mitochondrial diseases.
  • Understanding the clinical spectrum and genetic basis is crucial for diagnosis and management.
  • Further research into mitochondrial ataxias will improve patient outcomes.