Morquio a Syndrome: Identification of Differential Patterns of Molecular Pathway Interac-Tions in Bone Lesions

J.  Victor Alvarez; Susana B Bravo; Maria del Pilar Chantada-Vázquez; Carmen Pena; Cristóbal Colón; Shunji Tomatsu; Francisco J. Otero-Espinar; MARIA LUZ COUCE

doi:10.20944/preprints202401.2246.v1

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preprints.org > medicine and pharmacology > endocrinology and metabolism > doi: 10.20944/preprints202401.2246.v1

Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Morquio a Syndrome: Identification of Differential Patterns of Molecular Pathway Interac-Tions in Bone Lesions

J. Victor Alvarez

Susana B Bravo

Maria del Pilar Chantada-Vázquez

Carmen Pena

Cristóbal Colón

Shunji Tomatsu

^* ,

Francisco J. Otero-Espinar

^* ,

MARIA LUZ COUCE

Version 1 : Received: 31 January 2024 / Approved: 31 January 2024 / Online: 31 January 2024 (16:35:05 CET)

A peer-reviewed article of this Preprint also exists.

Álvarez, J.V.; Bravo, S.B.; Chantada-Vázquez, M.P.; Pena, C.; Colón, C.; Tomatsu, S.; Otero-Espinar, F.J.; Couce, M.L. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. Int. J. Mol. Sci. 2024, 25, 3232. Álvarez, J.V.; Bravo, S.B.; Chantada-Vázquez, M.P.; Pena, C.; Colón, C.; Tomatsu, S.; Otero-Espinar, F.J.; Couce, M.L. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. Int. J. Mol. Sci. 2024, 25, 3232.

Abstract

Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically explored using invasive techniques such as bone biopsy, which complicates analysis in humans. We compared bone proteomes using DDA and SWATH-MS in wild-type and MPS IVA knockout mice to obtain mechanistic information about the disease. Our findings reveal over 1000 dysregulated proteins in knockout mice, including those implicated in oxidative phosphorylation, oxidative stress (reactive oxygen species), DNA damage, and iron transport, and suggest that lactate dehydrogenase may constitute a useful prognostic and follow-up biomarker. Identifying biomarkers that reflect MPS IVA clinical course, severity, and progression have important implications for disease management.

Keywords

animal studies; biomarkers; aucopolysaccharidosis type IV; musculoskeletal manifestations; proteomic

Subject

Medicine and Pharmacology, Endocrinology and Metabolism

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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