Peer-influenced content. Sources you trust. No registration required. This is HCN.

MDLinxALS and Frontotemporal Dementia Show Origins in Utero, According to New Study

It was shown that up to 10% of ALS and FTD cases are linked to mutations in the C9ORF72 gene.

A study published in Cell Reports has shed light on the early origins of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Researchers from the University of Southern California (USC) have found that the most common genetic cause of these diseases impacts neural stem cells and brain regions during embryonic development, suggesting that the roots of these neurodegenerative conditions may be traced back to the womb.

Key Points:
  • The study was led by Justin Ichida, the John Douglas French Alzheimer’s Foundation Associate Professor of Stem Cell Biology and Regenerative Medicine at USC.
  • Patient-derived neural stem cells showed impaired ability to renew their population and prematurely differentiated into mature neurons.
  • Mice with C9ORF72 mutations exhibited smaller thalamic regions, reduced cortical thickness, and weighed 5–10% less at embryonic day 18.5.
Additional Points:
  • The study used both patient-derived nerve cells and laboratory mice for the research.
  • The patient-derived neural stem cells contained a mutant protein called poly(AP) that impairs their ability to make proteins necessary for building new cells.
  • A drug causing similar structural brain changes during embryonic development led to motor deficits in mice at two months of age.
Quote icon

“It’s unclear whether this reduction in gray matter arises from altered development in an embryo or from early degeneration in an adult.”
– Eric Hendricks, first author and postdoc in the Ichida Lab

More on ALS…

The Healthcare Communications Network is owned and operated by IQVIA Inc.

Click below to leave this site and continue to IQVIA’s Privacy Choices form