Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.

ABSTRACT:

Objective

To identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein.

Methods

Erythrocyte membrane proteins from patients with suspected MLS and patients with ChAc, ChAc mutant carriers, and normal controls were analyzed by XK and chorein immunoblotting. We performed mutation analysis and XK immunoblotting to molecularly diagnose the patients with suspected MLS. Lysates of cultured cells were co-immunoprecipitated with anti-XK and anti-chorein antibodies.

Results

All suspected MLS cases were molecularly diagnosed with MLS, and novel mutations were identified. The average onset age was 46.8 ± 8 years, which was old

SUBMITTER: Urata Y 

PROVIDER: S-EPMC6481271 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature