A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease.

ABSTRACT:

Background

We investigated whether a heterozygous mutation that we newly identified in HTRA1 (high-temperature requirement serine protease A1 gene) in a pedigree with autosomal dominant hereditary cerebral small vessel disease (SVD) reduces the function of HTRA1 and affects the transforming growth factor-β1 (TGF-β1)/Smad signaling.

Methods

Whole-exome sequence from the proband and her two sisters was examined using whole-exome enrichment and sequencing. Expression of HTRA1 and TGF-β1/Smad and HTRA1 activity were assayed using sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blotting analyses after transfecting wild-type and mutant HTRA1 genes into HEK293 cells.

Results

A new heterozygous mutation (c.614C>G:p.Ser205Cys) in HTRA1 was identified in t

SUBMITTER: Zhuo ZL 

PROVIDER: S-EPMC7284040 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature