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Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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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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ATP Synthase: Structure01:18

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ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
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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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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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Mitochondrial Precursor Proteins01:39

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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...
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Michael Zech1,2, Robert Kopajtich1,2, Katja Steinbrücker3

  • 1Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.

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Defects in nuclear ATP synthase (ATPase) genes are linked to rare diseases. This study identified new variants causing neurodevelopmental and neurodegenerative disorders, expanding the spectrum of ATPase-related conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • ATP synthase (ATPase) is crucial for cellular energy production.
  • Mutations in ATPase subunits are rarely associated with disease phenotypes.
  • The spectrum of ATPase-related diseases requires further expansion.

Purpose of the Study:

  • To identify novel genetic variants in ATPase-encoding genes.
  • To expand the understanding of ATPase-related diseases.
  • To investigate the clinical impact of ATPase gene mutations.

Main Methods:

  • Whole-exome sequencing in 2,962 patients with mitochondrial disease and/or dystonia.
  • International collaboration to identify deleterious variants.
  • Transcriptional, proteomic, and functional assays on patient-derived cells and tissues.

Main Results:

  • Identified 10 individuals with variants in nuclear ATPase subunit genes.
  • Detected pathogenic variants in ATP5F1E, ATP5PO, ATP5F1A, and ATP5MC3.
  • Observed reduced ATPase protein levels, activity, and/or assembly defects.
  • Reported heterogeneous clinical phenotypes including movement disorders, developmental delay, and epilepsy.

Conclusions:

  • Nuclear gene defects in ATPase are implicated in neurodevelopmental and neurodegenerative disorders.
  • This study establishes a previously unrecognized role for these genetic defects.
  • Findings broaden the diagnostic scope for rare genetic diseases affecting energy metabolism.