Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review

Background: Lysosomal storage diseases (LSDs) are caused by a mutation in a specific gene. Enzymatic dysfunction results in a progressive storage of substrates that gradually affects lysosomal, cellular and tissue physiology. Their pathophysiological consequences vary according to the nature of the...

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Autores principales:	Daniela Vuolo, Cinthia Castro Do Nascimento, Vânia D’Almeida
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	lysosomal storage diseases mucopolysaccharidosis sphingolipidosis lipidosis reproduction sperm Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/694f3ffcda534b1486cb45e58cfb6706
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spelling	oai:doaj.org-article:694f3ffcda534b1486cb45e58cfb67062021-11-12T06:31:38ZReproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review2296-889X10.3389/fmolb.2021.773384https://doaj.org/article/694f3ffcda534b1486cb45e58cfb67062021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fmolb.2021.773384/fullhttps://doaj.org/toc/2296-889XBackground: Lysosomal storage diseases (LSDs) are caused by a mutation in a specific gene. Enzymatic dysfunction results in a progressive storage of substrates that gradually affects lysosomal, cellular and tissue physiology. Their pathophysiological consequences vary according to the nature of the stored substrate, making LSDs complex and multisystemic diseases. Some LSDs result in near normal life expectancies, and advances in treatments mean that more people reach the age to have children, so considering the effects of LSDs on fertility and the risks associated with having children is of growing importance.Objectives: As there is a lack of clinical studies describing the effect of LSDs on the physiology of reproductivity, we undertook a scoping review of studies using animal models of LSDs focusing on reproductive parameters.Methods: We searched six databases: MEDLINE, LILACS, Scopus, Web of Science, Embase and SciELO, and identified 49 articles that met our inclusion criteria.Results: The majority of the studies used male animal models, and a number reported severe morphological and physiological damage in gametes and gonads in models of sphingolipidoses. Models of other LSDs, such as mucopolysaccharidoses, presented important morphological damage.Conclusion: Many of the models found alterations in reproductive systems. Any signs of subfertility or morphological damage in animal models are important, particularly in rodents which are extremely fertile, and may have implications for individuals with LSDs. We suggest the use of more female animal models to better understand the physiopathology of the diseases, and the use of clinical case studies to further explore the risks of individuals with LSDs having children.Daniela VuoloCinthia Castro Do NascimentoVânia D’AlmeidaVânia D’AlmeidaFrontiers Media S.A.articlelysosomal storage diseasesmucopolysaccharidosissphingolipidosislipidosisreproductionspermBiology (General)QH301-705.5ENFrontiers in Molecular Biosciences, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	lysosomal storage diseases mucopolysaccharidosis sphingolipidosis lipidosis reproduction sperm Biology (General) QH301-705.5
spellingShingle	lysosomal storage diseases mucopolysaccharidosis sphingolipidosis lipidosis reproduction sperm Biology (General) QH301-705.5 Daniela Vuolo Cinthia Castro Do Nascimento Vânia D’Almeida Vânia D’Almeida Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
description	Background: Lysosomal storage diseases (LSDs) are caused by a mutation in a specific gene. Enzymatic dysfunction results in a progressive storage of substrates that gradually affects lysosomal, cellular and tissue physiology. Their pathophysiological consequences vary according to the nature of the stored substrate, making LSDs complex and multisystemic diseases. Some LSDs result in near normal life expectancies, and advances in treatments mean that more people reach the age to have children, so considering the effects of LSDs on fertility and the risks associated with having children is of growing importance.Objectives: As there is a lack of clinical studies describing the effect of LSDs on the physiology of reproductivity, we undertook a scoping review of studies using animal models of LSDs focusing on reproductive parameters.Methods: We searched six databases: MEDLINE, LILACS, Scopus, Web of Science, Embase and SciELO, and identified 49 articles that met our inclusion criteria.Results: The majority of the studies used male animal models, and a number reported severe morphological and physiological damage in gametes and gonads in models of sphingolipidoses. Models of other LSDs, such as mucopolysaccharidoses, presented important morphological damage.Conclusion: Many of the models found alterations in reproductive systems. Any signs of subfertility or morphological damage in animal models are important, particularly in rodents which are extremely fertile, and may have implications for individuals with LSDs. We suggest the use of more female animal models to better understand the physiopathology of the diseases, and the use of clinical case studies to further explore the risks of individuals with LSDs having children.
format	article
author	Daniela Vuolo Cinthia Castro Do Nascimento Vânia D’Almeida Vânia D’Almeida
author_facet	Daniela Vuolo Cinthia Castro Do Nascimento Vânia D’Almeida Vânia D’Almeida
author_sort	Daniela Vuolo
title	Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
title_short	Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
title_full	Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
title_fullStr	Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
title_full_unstemmed	Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
title_sort	reproduction in animal models of lysosomal storage diseases: a scoping review
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/694f3ffcda534b1486cb45e58cfb6706
work_keys_str_mv	AT danielavuolo reproductioninanimalmodelsoflysosomalstoragediseasesascopingreview AT cinthiacastrodonascimento reproductioninanimalmodelsoflysosomalstoragediseasesascopingreview AT vaniadalmeida reproductioninanimalmodelsoflysosomalstoragediseasesascopingreview AT vaniadalmeida reproductioninanimalmodelsoflysosomalstoragediseasesascopingreview
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Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review

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