COSMC mutations reduce T-synthase activity in advanced Alzheimer's disease.

ABSTRACT:

Introduction

Mutations in brain tissues that cumulate with age may contribute to Alzheimer's disease (AD). Abnormal glycoprotein and Tn antigen expression have been demonstrated in AD. We identified C1GALT1C1/COSMC mutations in AD and age-matched normals without AD. The COSMC coding mutations resulted in a significant reduction in T-synthase activity in advanced AD cases.

Methods

Identification of COSMC mutations, Real-Time Quantitative Reverse Transcription PCR (Q-RT-PCR), western blotting, and T-synthase activity assays.

Results

COSMC mutations were detected in the promotor, coding region and 3'UTR in AD and normals. COSMC coding mutations demonstrated a correlation with AD progression. T-synthase levels were significantly e

SUBMITTER: Gollamudi S 

PROVIDER: S-EPMC7317644 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature