Scientists uncover why Friedreich's ataxia affects only Eurasians, linking to specific gene mutations
A new study explains why Friedreich's ataxia (FRDA), an enervating genetic disorder, primarily affects individuals of Eurasian descent. Researchers at the University of Oklahoma Health Sciences Center identified 'protomutations' in long-normal variants of the FXN gene as the cause. These protomutations, arising only a few times in history, slowly transform into pre-mutations and then rapidly into expanded variants, leading to FRDA. The study highlights the role of consanguineous marriages in India in increasing the risk of this rare disease and opens avenues for early detection and targeted genetic counselling.
Key Points
- Friedreich's ataxia (FRDA) is a genetic disorder damaging nerves and the heart, caused by mutations in the FXN gene.
- The study identified 'protomutations' in long-normal variants of the FXN gene as the reason FRDA affects specific populations.
- These protomutations, found in Europe and West Asia, explain why FRDA is prevalent in Eurasians but absent in East Asia and sub-Saharan Africa.
- Consanguineous marriages significantly increase the risk of FRDA in communities like those in India.
- The findings offer potential for developing strategies for early detection and slowing disease progression.
Exam Facts
- Disorder: Friedreich's ataxia (FRDA)
- Gene responsible: FXN gene (codes for frataxin protein)
- Research institution: University of Oklahoma Health Sciences Center (U.S.)
- Publication journal: Human Molecular Genetics (June 9)
- Indian diagnostic center: Nizam's Institute of Medical Sciences, Hyderabad
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