Related Experiment Video
Updated: Jun 22, 2025
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8
Raquel Baviera-Muñoz1,2,3, Lidón Carretero-Vilarroig2, Ana Pedro-Ibor2
1Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.
Background:
Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.
Objectives:
We aimed to further investigate the molecular background of patients with SCA8 diagnosis.
Methods:
Patients were selected from our cohort of 346 families. A total of 14 probands with SCA8 underwent additional investigation through exome sequencing.
Results:
Pathogenic heterozygous STUB1 variants were found in 21.4% of SCA8 patients (3 of 14) compared to only 0.5% in the non-SCA8 group (1 of 222), indicating a statistically significant association (P < 0.05).
Conclusions:
The findings reported in this study might suggest a genetic synergism between STUB1 and ATXN8OS/ATXN8 expanded alleles. Further studies are needed to validate this observation and better define the clinical impact of this genetic interaction.
Related Concept Videos
01:39Mutations
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...