Cellular and molecular alterations in fibroblasts from mucopolysaccharidosis IIIA patients

GOROJOD, ROXANA MAYRA; PORTE ALCON, SOLEDAD; KOTLER, MÓNICA LIDIA

Mar del Plata

Congreso; Reunión anual de Sociedades Biocientíficas 2019; 2019

SAIC, SAFE, SAB, SAP, NANOMED-ar, AACYTAL, HCS

Mucopolysaccharidosis type III (MPS III) -also known as Sanfilippo syndrome- is a lysosomal storage disease (LSD) caused by genetic defects in the enzymes responsible for heparan sulfate (HS) degradation. Stored glycosaminoclycans (GAGs) not only affect lysosomal function, but also interfere with several intracellular processes that are still poorly understood. The aim of this study was to deepen in the knowledge of the cellular alterations involved in MPSIIIA with focus on lysosomes and mitochondria. For this purpose, we employed GM00643 and GM00879 MPSIIIA human fibroblast cell lines and GM00498 (age- matched control) from Coriell Institute for Medical Reseach. SGSH activity was decreased 90±5 and 89±3% (p