Origin of Spinocerebellar Ataxia Type 10
Author Information
Author(s): Almeida Teresa, Alonso Isabel, Martins Sandra, Ramos Eliana Marisa, Azevedo Luísa, Ohno Kinji, Amorim António, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach, Matsuura Tohru, Sequeiros Jorge, Silveira Isabel
Primary Institution: UnIGENe, IBMC- Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
Hypothesis
What is the ancestral origin of the ATTCT repeat expansion in Spinocerebellar Ataxia Type 10 (SCA10)?
Conclusion
The study provides evidence for a common ancestral origin of SCA10 in Latin America, likely arising from an Amerindian population.
Supporting Evidence
- All expanded chromosomes in Brazilian families shared the 8CGGC1 haplotype.
- A shared haplotype for pure and interrupted expanded alleles suggests a gene conversion model.
- The study indicates a single mutational event for SCA10 in Latin American populations.
Takeaway
This study looked at families with a brain disease called SCA10 and found that it likely started a long time ago in the Americas.
Methodology
The researchers conducted a haplotype study using STR markers and SNPs in families from Brazil and Mexico.
Potential Biases
Potential bias due to the limited geographic focus on Latin American populations.
Limitations
The study is limited to specific populations and may not represent the global diversity of SCA10.
Participant Demographics
Participants included families from Brazil and Mexico with mixed ancestry.
Statistical Information
P-Value
0.011
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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