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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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The C9ORF72 repeat expansion alters neurodevelopment.

Eric Hendricks1, Alicia M Quihuis2, Shu-Ting Hung1

  • 1Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA; Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA 90033, USA; Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Cell Reports
|August 17, 2023
PubMed
Summary

The C9ORF72 repeat expansion, a cause of frontotemporal dementia (FTD) and ALS, impairs embryonic brain development by reducing neural stem cell proliferation. This developmental defect increases susceptibility to motor deficits later in life.

Keywords:
C9ORF72CP: Neuroscienceamyotrophic lateral sclerosisfrontotemporal dementiainduced pluripotent stem cellsneural stem cellsneurodevelopment

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Adult-onset neurodegenerative diseases, like frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), stem from genetic mutations often expressed during embryonic development.
  • The precise impact of these mutations on neurodevelopment and their subsequent influence on disease onset remain largely unknown.

Purpose of the Study:

  • To investigate how the C9ORF72 repeat expansion, a common genetic cause of FTD and ALS, affects embryonic neurodevelopment.
  • To identify the specific mechanisms by which this expansion influences brain development and disease susceptibility.

Main Methods:

  • Utilized mouse models carrying the C9ORF72 repeat expansion.
  • Assessed neural stem cell proliferation and brain region sizes (cortex, thalamus) during embryonic development.
  • Investigated the role of dipeptide repeat proteins (DPRs) derived from the repeat expansion.
  • Pharmacologically mimicked developmental effects in C9ORF72 mice to assess motor function.

Main Results:

  • The C9ORF72 repeat expansion was found to restrict neural stem cell proliferation in utero.
  • Significant reductions in cortical and thalamic size were observed in affected embryos.
  • A DPR, not previously known to affect neuronal viability, was identified as a key factor in impairing neurodevelopment.
  • Pharmacological induction of these developmental effects heightened motor defects in C9ORF72 mice.

Conclusions:

  • The C9ORF72 repeat expansion directly impairs embryonic brain development, specifically affecting regions crucial for motor function.
  • Dipeptide repeat proteins play an unexpected role in mediating these neurodevelopmental deficits.
  • Early-life neurodevelopmental alterations contribute to the pathogenesis and onset of C9ORF72-linked FTD and ALS.