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Related Concept Videos

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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Related Experiment Video

Updated: Jun 29, 2025

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
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An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

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Precision mitochondrial medicine.

Patrick F Chinnery1,2

  • 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

Cambridge Prisms. Precision Medicine
|March 29, 2024
PubMed
Summary
This summary is machine-generated.

Mitochondrial genetic variants are linked to diseases, offering new avenues for precision medicine and disease risk prediction. Research highlights their role in both rare disorders and common conditions.

Keywords:
genetic polymorphismgenetic risk scoregeneticsgenomicsmetabolic diseases

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Area of Science:

  • Mitochondrial biology and genetics
  • Genetics of complex diseases
  • Precision medicine

Background:

  • Mitochondria are crucial for cellular energy (ATP) production and metabolic regulation, maintaining cell homeostasis.
  • Mitochondrial dysfunction is implicated in numerous common diseases, with genetic factors playing a significant role.
  • Targeting mitochondrial genes presents a promising strategy for precision medicine interventions.

Purpose of the Study:

  • To review the association between mitochondrial genetic variants and clinical phenotypes.
  • To explore the therapeutic implications of mitochondrial genetics.
  • To assess the role of mitochondrial genetic variants in common disease risk.

Main Methods:

  • Review of current evidence on mitochondrial genetic variants and clinical phenotypes.
  • Analysis of studies on rare inherited mitochondrial disorders.
  • Examination of genome-wide association studies (GWAS) implicating mitochondrial DNA (mtDNA) variants.

Main Results:

  • Strongest evidence links rare inherited mitochondrial disorders to specific genetic variants.
  • Genome-wide association studies reveal mtDNA variants associated with common disease risk.
  • Over 1,100 candidate genes involved in mitochondrial biogenesis reside in nuclear and mitochondrial DNA.

Conclusions:

  • Mitochondrial genetic variants have clear therapeutic implications, particularly in rare disorders.
  • mtDNA variants contribute to the risk of common diseases, supporting their use in risk stratification.
  • Integrating mitochondrial genetic variant analysis into population health strategies is warranted.