Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.

ABSTRACT:

Background

The CLN3 disease spectrum ranges from a childhood-onset neurodegenerative disorder to a retina-only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularly when novel genetic variants are identified. In this study, we assessed whether lymphocyte vacuolization, a well-known yet poorly explored characteristic of CLN3 disease, could serve as a measure of disease severity.

Methods

Peripheral blood obtained from healthy controls and CLN3 disease patients was used to assess lymphocyte vacuolization by (a) calculating the degree of vacuolization using light microscopy and (b) quantifying expression of lysosomal-associated membrane protein 1 (LAMP-1), using flow cytometry in lymphocyte subsets as well

SUBMITTER: Kuper WFE 

PROVIDER: S-EPMC7358670 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature