Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function.

ABSTRACT: Salla disease (SD) is a lysosomal storage disease where free sialic acid (SA) accumulates in lysosomes due to the impaired function of a membrane protein, sialin. Synchrotron radiation-based scanning transmission soft X-ray spectromicroscopy (STXM) was used to analyze both SD patients' fibroblasts and normal human dermal fibroblasts (NHDF) from healthy controls. Both cell lines were also cultured with N-acetyl-d-mannosamine monohydrate (ManNAc) to see if it increased SA concentration in the cells. The STXM technique was chosen to simultaneously observe the morphological and chemical changes in cells. It was observed that free SA did not remain in the lysosomes during the sample processing, leaving empty vacuoles to the fibroblasts. The total cytosol and entire cell spectra, however,

SUBMITTER: Mansikkala T 

PROVIDER: S-EPMC11385984 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature