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Related Concept Videos

Animal Mitochondrial Genetics02:59

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...
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial precursors...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

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...
Mitochondrial Membranes01:45

Mitochondrial Membranes

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,...
Mitochondrial Membranes01:45

Mitochondrial Membranes

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,...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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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Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
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VACTERL association and mitochondrial dysfunction.

Benjamin D Solomon1, Ankita Patel, Sau Wai Cheung

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@ mail.nih.gov

Birth Defects Research. Part A, Clinical and Molecular Teratology
|February 11, 2011
PubMed
Summary
This summary is machine-generated.

Mitochondrial dysfunction may be linked to VACTERL association, a rare condition causing birth defects. Early testing for mitochondrial issues is crucial for affected children.

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Area of Science:

  • Pediatric Genetics
  • Mitochondrial Biology
  • Developmental Biology

Background:

  • VACTERL association is a complex condition with unknown causes, characterized by multiple congenital anomalies.
  • While rare cases link VACTERL to mitochondrial dysfunction, diagnostic testing is infrequently pursued.
  • Clinical signs suggestive of mitochondrial disease are observed in VACTERL patients.

Observation:

  • A patient with VACTERL association presented with symptoms of mitochondrial dysfunction at 13 months.
  • Clinical manifestations included progressive muscle weakness, autonomic dysregulation, and episodic hypoglycemia.
  • The patient exhibited exocrine pancreatic dysfunction and confirmed mitochondrial dysfunction (cytochrome c oxidase deficiency).

Findings:

  • This case highlights a potential association between VACTERL association and mitochondrial dysfunction.
  • Cytochrome c oxidase deficiency was identified as a specific indicator of mitochondrial impairment.
  • The patient's presentation underscores the overlap in clinical signs.

Implications:

  • Clinicians should consider mitochondrial dysfunction in VACTERL patients presenting with relevant symptoms.
  • Increased awareness and timely diagnostic evaluation can improve patient outcomes.
  • Further research is warranted to elucidate the relationship between VACTERL and mitochondrial disorders.