Organoid research sheds light on gene mutation linked to dementia

Human brain

New understanding of a gene that is linked to some forms of dementia and other age-related diseases gives scientists fresh hope that action can be taken against these diseases long before the onset of symptoms.

The gene – called Angiogenin or ANG – is associated with a number of neurodegenerative diseases commonly associated with old age, including frontotemporal dementia (FTD), motor neurone disease (MND) and Parkinson’s disease.

Using organoids, scientists at the University of Bath found that this gene – in its healthy state – plays an important role in the pace at which undifferentiated stem cells develop into specialised nerve cells.

In its mutated form, however, ANG causes stem cells to persist in their original state longer than they should. In lab experiments, this slowing down of the differentiation process was seen to result in striking neurodevelopmental defects in nerve cells once they had reached their adult form.

“This suggests nerve-cell degeneration may be primed by defects occurring during early development,” said Dr Vasanta Subramanian, Department of Life Sciences at Bath. “Our new discovery adds to our understanding of Angiogenin and its importance in protecting us from diseases associated with ageing.”

The researchers studied a family affected by both frontotemporal dementia and motor neurone disease. Some family members had mutations in ANG while others did not. For all family members, ‘mini-brains’ were grown in the lab, a tiny 3D structure grown from clusters of human stem cells.

The researchers observed striking neurodevelopmental defects in the mini-brains of family members carrying the ANG mutation.

“This seems to indicate that subtle development defects play a role in disease susceptibility or onset,” said Dr Subramanian. “I envisage a time when we will be identifying people who are susceptible to these diseases, screening them for genetic mutations and offering early-intervention gene therapy to fix the defects.”

Related Articles

Join FREE today and become a member
of Drug Discovery World

Membership includes:

  • Full access to the website including free and gated premium content in news, articles, business, regulatory, cancer research, intelligence and more.
  • Unlimited App access: current and archived digital issues of DDW magazine with search functionality, special in App only content and links to the latest industry news and information.
  • Weekly e-newsletter, a round-up of the most interesting and pertinent industry news and developments.
  • Whitepapers, eBooks and information from trusted third parties.
Join For Free