Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

DeLong, Kathryn; Feigenbaum, Annette; Pollard, Laura; Lay, Andrew; Wood, Timothy C.

doi:10.1016/j.ymgmr.2022.100920

Cited by 1 publication

(1 citation statement)

References 9 publications

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“…Under physiological conditions, the GALNS enzyme leads to lysosomal degradation of the glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin 6-sulfate (C6S). Impaired GALNS activity results in patients suffering from skeletal abnormalities, short stature, hearing loss, corneal clouding, and pulmonary and cardiac dysfunctions [4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

Leal,

Alméciga-Díaz,

Tomatsu

2023

IJMS

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Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients. For years, the MPS IVA pathogenesis and the assessment of promising drugs have been evaluated using in vitro (primarily fibroblasts) and in vivo (mainly mouse) models. Even though value information has been raised from those studies, these models have several limitations. For instance, chondrocytes have been well recognized as primary cells affected in MPS IVA and responsible for displaying bone development impairment in MPS IVA patients; nonetheless, only a few investigations have used those cells to evaluate basic and applied concepts. Likewise, current animal models are extensively represented by mice lacking GALNS expression; however, it is well known that MPS IVA mice do not recapitulate the skeletal dysplasia observed in humans, making some comparisons difficult. This manuscript reviews the current in vitro and in vivo MPS IVA models and their drawbacks.

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