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Related Concept Videos

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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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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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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Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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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.
ROS generation is regulated and maintained at moderate levels necessary...
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Mutations01:35

Mutations

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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.
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Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
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Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

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Mitochondrial DNA mutations in aging.

Konstantin Khrapko1, Doug Turnbull2

  • 1Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

Progress in Molecular Biology and Translational Science
|August 24, 2014
PubMed
Summary
This summary is machine-generated.

Mitochondrial DNA (mtDNA) mutations

Keywords:
AgingClonal expansionEvolution of agingMitochondrial DNAMutations

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Area of Science:

  • Gerontology and Molecular Biology
  • Mitochondrial Medicine

Background:

  • The role of mitochondrial DNA (mtDNA) mutations in the aging process remains a subject of ongoing scientific debate.
  • Most mtDNA mutations are recessive, requiring clonal expansion to high levels within cells to cause significant cellular dysfunction, such as respiratory deficiency.
  • The low overall burden of mtDNA mutations means their effects are often localized to specific tissues or cell types.

Purpose of the Study:

  • To explore the complex relationship between mitochondrial DNA mutations and the aging process.
  • To investigate the localized impact of mtDNA mutations in specific tissues and their contribution to age-related decline.
  • To evaluate the potential of mtDNA sequence variations across species as indicators of longevity.

Main Methods:

  • Analysis of mtDNA mutation dynamics, including clonal expansion and distribution within cells.
  • Examination of specific tissues such as muscle fibers, colon crypts, and substantia nigra neurons for mtDNA mutation burdens.
  • Comparative genomics of mtDNA sequences across species with varying lifespans.
  • Utilizing the mtDNA "mutator" mouse model to study accelerated mutation rates.

Main Results:

  • mtDNA mutations' effects are confined to areas with high local mutant fractions, like muscle fibers and colon crypts.
  • Massive expansions of deleted mtDNA are observed in neurons of the substantia nigra.
  • The mtDNA "mutator" mouse model provides insights but may not perfectly replicate human aging mutation patterns.
  • Species longevity correlates with distinct mtDNA sequence traits, warranting further investigation.

Conclusions:

  • Somatic mtDNA mutations accumulate with age, increasing their significance as human life expectancy rises.
  • Understanding localized mtDNA mutation effects is crucial for comprehending age-related pathologies.
  • Cross-species mtDNA comparisons offer potential avenues for understanding biological aging mechanisms.