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A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
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High-resolution Respirometry to Assess Mitochondrial Function in Permeabilized and Intact Cells
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Mitochondrial Function in 22q11 Deletion Syndrome.

Emily B Warren1, Eric M Morrow2

  • 1Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA.

Neuron
|June 21, 2019
PubMed
Summary
This summary is machine-generated.

Copy number variants can cause genetic disorders by changing gene dosage. Researchers found that reduced mitochondrial Txnrd2 function contributes to brain connectivity issues in 22q11 deletion syndrome.

Keywords:
22q11 deletionCNVROSTxnrd2copy number variantcortico-cortical connectivitymitochondriareactive oxygen species

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Copy number variant (CNV) disorders result from changes in the dosage of multiple genes.
  • 22q11 deletion syndrome (22q11DS) is a common genetic disorder associated with neurodevelopmental abnormalities.

Purpose of the Study:

  • To investigate the genetic and molecular underpinnings of hypo-cortico-cortical connectivity in 22q11DS.
  • To identify specific genes within the 22q11 region that contribute to altered brain connectivity.

Main Methods:

  • Analysis of gene dosage in individuals with 22q11DS.
  • Functional studies on the role of candidate genes in neuronal connectivity.
  • Mitochondrial function assays.

Main Results:

  • Fernandez et al. identified haploinsufficiency of mitochondrial thioredoxin reductase 2 (Txnrd2) as a key factor.
  • Reduced Txnrd2 levels impair mitochondrial function.
  • This impairment is linked to reduced cortico-cortical connectivity in 22q11DS.

Conclusions:

  • Mitochondrial Txnrd2 haploinsufficiency is a significant contributor to the neurological deficits observed in 22q11DS.
  • Targeting mitochondrial function may offer therapeutic strategies for 22q11DS.