Molecular pathogenesis of human CD59 deficiency.

ABSTRACT:

Objective

To characterize all 4 mutations described for CD59 congenital deficiency.

Methods

The 4 mutations, p.Cys64Tyr, p.Asp24Val, p.Asp24Valfs*, and p.Ala16Alafs*, were described in 13 individuals with CD59 malfunction. All 13 presented with recurrent Guillain-Barré syndrome or chronic inflammatory demyelinating polyneuropathy, recurrent strokes, and chronic hemolysis. Here, we track the molecular consequences of the 4 mutations and their effects on CD59 expression, localization, glycosylation, degradation, secretion, and function. Mutants were cloned and inserted into plasmids to analyze their expression, localization, and functionality.

Results

Immunolabeling of myc-tagged wild-type (WT) and mutant CD59 proteins revealed cell surface expression of p.Cys64Tyr and

SUBMITTER: Karbian N 

PROVIDER: S-EPMC6244018 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature