Characterization of a spontaneous cell line from primary mouse fibroblasts as a model to study Sanfilippo syndrome

• Published in: The international journal of biochemistry & cell biology Vol. 142; p. 106119
• Main Authors: Veraldi, Noemi, Dentand Quadri, Isabelle, de Agostini, Ariane
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.01.2022
• Subjects: Animals; Cell Line; Cell Proliferation; Disease Models, Animal; Fibroblasts - metabolism; Fibroblasts - pathology; Heparan sulfate; Heparitin Sulfate - metabolism; Metabolic labeling; Mice; MPS-III; Mucopolysaccharidosis III - genetics; Mucopolysaccharidosis III - metabolism; Mucopolysaccharidosis III - pathology; Sanfilippo; Heparan sulfate; Cell line; Sanfilippo; MPS-III; Metabolic labeling
• ISSN: 1357-2725; 1878-5875; 1878-5875
• DOI: 10.1016/j.biocel.2021.106119

To evaluate a new approach to Mucopolysaccharidosis type IIIA (MPS-IIIA), work was initiated on primary fibroblasts from a well-known mouse model in which sulfamidase deficiency correlates with the accumulation of heparan sulfate - the hallmark of this disease. Once the culture of fibroblasts was established, we observed continuous proliferation with a rapid growth rate, loss of contact inhibition and late passage stability, corresponding to a spontaneously immortalized cell line. The presence of the single point D31N mutation was verified and both rapid and abundant intracellular accumulation of low molecular weight HS was observed, confirming both genotype and phenotype. This cell line is a potential in vitro model system for future studies of MPS-IIIA prior to employing animal models.