MDS Podcast SCA3 & life in the countryside: Exploring the interplay between genetics and environment
May 27, 2025
Dr. Sarah Camargos chats with Prof. Laura Bannach Jardim, a prominent Neurology Professor at the Federal University of Rio Grande do Sul, known for her expertise in neurogenetic diseases. They delve into how rural living impacts the onset of Machado-Joseph disease, revealing surprising connections between environmental factors and health. The discussion touches on the genetic roots of the disease, the need for confirmatory research in diverse populations, and highlights the healthcare inequalities faced by affected families in Brazil.
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Founder Effect in Machado-Joseph Disease
- Machado-Joseph disease appeared in southern Brazil from Azorian settlers in the 18th century.
- Most patients share the same ancestral haplotype from this founder effect.
Genetic Expansion & Disease Onset
- Expanded CAG repeats explain much of the variability in age at onset for Machado-Joseph disease.
- Residual age at onset reveals other modifier factors influencing whether symptoms appear earlier or later than predicted.
Exploring Environment as Modifier
- Environmental factors may modify age at onset although Machado-Joseph is genetically determined.
- Rural versus urban living differences could influence age at onset and deserve scientific investigation.