Navegando por Palavras-chave "Lysosomal Storage Diseases"

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    Influência das doenças de depósito lisossômico em parâmetros reprodutivos de modelos animais: uma revisão de escopo
    (Universidade Federal de São Paulo (UNIFESP), 2021) Vuolo, Daniela [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo
    Lysosomal Storage Diseases (LSDs) are caused by mutated genes that code lysosomal hydrolases that catabolize different substrates. Since they are progressively accumulated, they lead to cellular, tissue and systemic damages that characterize these diseases as multisystemic and severe. Animal models have been built for a better comprehension of the pathophysiology of these diseases and also to the development of therapeutic strategies. Vital organs such as brain, liver and heart, and tissues that are clearly affected such as bones and joints, are continuously studied. However, the impact of LSDs on male and female reproduction is unclear. Due to the therapeutic possibilities, the life expectancy of patients has been raised and many of them reach puberty, which induce researchers to investigate their reproductive capacity. The present work aimed to systematically search for studies with animal models of LSDs that mention male or female reproductive parameters. Data collection was performed using six databases and 616 articles were identified. Among them, 38 were duplicated and were excluded. From 575 remaining studies, 49 were in accordance with our inclusion criteria. Articles were analyzed and distributed according to their main findings. Our results suggest that most o LSDs interfere in reproductive parameters, some of them impair the fertility, while others only present signs of morphological damages, which in rodent models, did not impact significantly on their reproductive capacity. We also detected a lack of pre-clinical studies with females, since the majority of the studies was performed with males. The characterization of the models identifies important signs of infertility, subfertility and even the fertility maintenance in some models. However, as LSDs are progressive and with different phenotypic manifestations in patients, clinical studies are essential, especially case reports, considering the peculiarities of each patient such as disease progression, phenotype, type and period of treatment.