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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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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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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.
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Translocation of Proteins into the Mitochondria01:19

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Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
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Translation01:31

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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[Risk genes in myopathies and mitochondrial diseases].

C Stendel1,2, M C Walter3, T Klopstock3,4,5

  • 1Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, LMU München, Ziemssenstr. 1a, 80336, München, Deutschland. claudia.stendel@med.uni-muenchen.de.

Der Nervenarzt
|June 3, 2017
PubMed
Summary

Diagnosing myopathies and mitochondrial diseases is complex due to varied presentations. Recent research identifies disease-modifying genes that influence these conditions, but their exact role needs further study.

Keywords:
Degree of heteroplasmyFriedreich ataxiaMultiple organ involvementMuscular dystrophiesPhenotype

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Myopathies and mitochondrial diseases present diagnostic challenges due to diverse entities and multi-organ involvement.
  • Significant clinical variability exists within these diseases, even with identical genetic defects, complicating diagnosis and treatment.
  • Factors like environment, gender, and heteroplasmy contribute to variability, alongside suspected disease-modifying genes.

Purpose of the Study:

  • To explore the role of disease-modifying genes in the pathogenesis of myopathies and mitochondrial diseases.
  • To understand how genetic variations influence disease course and phenotypic variability.
  • To highlight the need for further research into the mechanisms of these modifying genes.

Main Methods:

  • Literature review of recent findings on disease-modifying genes in myopathies and mitochondrial diseases.
  • Analysis of genetic and clinical data to identify correlations between risk genes and disease phenotypes.
  • Comparative studies on patients with identical primary genetic defects but varying clinical outcomes.

Main Results:

  • Identification of specific risk genes that influence the progression and severity of certain myopathies and mitochondrial diseases.
  • Evidence suggests that these genes modulate disease expression, contributing to phenotypic variability.
  • The precise pathogenic mechanisms by which these genes act remain largely unelucidated.

Conclusions:

  • Disease-modifying genes play a significant role in the variable clinical presentation of myopathies and mitochondrial diseases.
  • Further research is crucial to unravel the molecular pathways and therapeutic implications of these genes.
  • Understanding these genetic modifiers may lead to more personalized diagnostic and treatment strategies.