Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.

ABSTRACT:

Objectives

Microvillus inclusion disease (MVID) is a rare autosomal recessive enteropathy characterized by intractable diarrhea and malabsorption. Recently, various MYO5B gene mutations have been identified in patients with MVID. Interestingly, several patients with MVID showed only a MYO5B mutation in 1 allele (heterozygous) or no mutations in the MYO5B gene, illustrating the need to further functionally characterize the cell biological effects of the MYO5B mutations.

Patients and methods

The genomic DNA of 9 patients diagnosed as having MVID was screened for MYO5B mutations, and quantitative polymerase chain reaction and immunohistochemistry on the material of 2 patients was performed to investigate resultant cellular consequences.

Results

We demonstrate for the fir

SUBMITTER: Szperl AM 

PROVIDER: S-EPMC3058815 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature