Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.

ABSTRACT:

Purpose

Choroideremia results from the deficiency of Rab Escort Protein 1 (REP1), encoded by CHM, involved in the prenylation of Rab GTPases. Here, we investigate whether the transcription and expression of other genes involved in the prenylation of Rab proteins correlates with disease progression in a cohort of patients with choroideremia.

Methods

Rates of retinal pigment epithelial area loss in 41 patients with choroideremia were measured using fundus autofluorescence imaging for up to 4 years. From lysates of cultured skin fibroblasts donated by patients (n = 15) and controls (n = 14), CHM, CHML, RABGGTB and RAB27A mRNA expression, and REP1 and REP2 protein expression were compared.

Results

The central autofluorescent island area loss in patients with choroideremia

SUBMITTER: Fry LE 

PROVIDER: S-EPMC8287038 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature