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The University of Southampton
IBD Southampton research studyNews

Scientists find new, rare mutations linked to inflammatory bowel disease

Published: 30 March 2017
Inflammatory bowel disease
Scientists find new, rare mutations linked to inflammatory bowel disease

The project details the analysis conducted between the Southampton Informatics group and the University of Stanford (USA) in order to comprehensively investigate the role of HSPA1L in IBD.

The Stanford group performed a family-based whole-exome sequencing analysis on an index family (Family A) and identified a potential causal mutation within HSPA1L. We subsequently analysed exome data from the Southampton paediatric cohort to further investigate mutations in the candidate gene HSPA1L. Biochemical assays on de novo and rare mutation variant proteins further validated the predicted deleterious effects of the identified alleles. In the proband of Family A, a heterozygous de novo mutation in HSPA1L was found. Through analysis of exome data from our cohort of 136 patients, we identified five additional rare HSPA1L mutations in six patients. In contrast, rare HSPA1L mutations were not observed in controls, and were significantly enriched in patients. Biochemical assays revealed that all six rare HSPA1L variants proteins showed decreased chaperone activity in vitro. These results indicated that de novo and rare mutations in HSPA1L might be associated with IBD and provide insights into the pathogenesis of IBD, as well as expand our understanding of the roles of heat shock proteins in human disease.

Video summarises Takahashi et al. "De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease” (2017).

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