The Protein Translocation Defect of MCT8^L291R Is Rescued by Sodium Phenylbutyrate.

ABSTRACT:

Introduction

The monocarboxylate transporter 8 (MCT8; SLC16A2) is a specific transporter for thyroid hormones. MCT8 deficiency, formerly known as the Allan-Herndon-Dudley syndrome, is a rare genetic disease that leads to neurological impairments and muscle weakness. Current experimental treatment options rely on thyromimetic agonists that do not depend on MCT8 for cellular uptake. Another approach comes from studies with the chemical chaperone sodium phenylbutyrate (NaPB), which was able to stabilize MCT8 mutants having protein folding defects in vitro. In addition, NaPB is known as a compound that assists with plasma membrane translocation.

Objective

The pathogenic MCT8^L291R leads to the same severe neurological impairments found for other MCT8-deficient patients

SUBMITTER: Braun D 

PROVIDER: S-EPMC7548921 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature