Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington's Disease.
Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington's Disease.
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DOI：
10.3390/ijms23137163
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发表时间：
2022-06-28
影响因子：
5.6
通讯作者：
中科院分区：
文献类型：
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作者：
亨廷顿氏病（Huntington 'sDisease，HD）是一种以运动功能障碍和认知缺陷为主要表现的常染色体显性遗传神经退行性疾病。在HD动物模型和HD男性患者中也观察到生育力降低，这是由于精子发生和精子功能改变，从而导致受精潜力降低。尽管目前使用一些药物来缓解HD症状，但FDA尚未批准有效治疗该疾病的发病机制。基因和相关的诊断生物标志物和治疗靶途径，包括糖酵解和线粒体复合物-I依赖性呼吸的鉴定可能有利于疾病的早期诊断、管理和治疗。本文综述了HD在神经元和精子代谢中的作用，包括HD发病机制中神经元和精子中相关基因和蛋白的表达。此外，含锌蛋白和锌相互作用蛋白调节神经元和精子中的锌离子稳态和/或受锌离子稳态调节。因此，本综述还旨在探讨锌在神经元和精子功能中的比较作用。正在进行的研究旨在表征在神经元和精子中表达的与HD发病机制有关的基因产物，以促进HD和HD相关男性不育症未来治疗途径的研究。锌稳态和HD通路之间的新联系可能导致新的治疗和诊断方法，将遗传精子缺陷与体细胞共病联系起来。
Huntington’s Disease (HD) is a fatal autosomal dominant neurodegenerative disease manifested through motor dysfunction and cognitive deficits. Decreased fertility is also observed in HD animal models and HD male patients, due to altered spermatogenesis and sperm function, thus resulting in reduced fertilization potential. Although some pharmaceuticals are currently utilized to mitigate HD symptoms, an effective treatment that remedies the pathogenesis of the disease is yet to be approved by the FDA. Identification of genes and relevant diagnostic biomarkers and therapeutic target pathways including glycolysis and mitochondrial complex-I-dependent respiration may be advantageous for early diagnosis, management, and treatment of the disease. This review addresses the HD pathway in neuronal and sperm metabolism, including relevant gene and protein expression in both neurons and spermatozoa, indicated in the pathogenesis of HD. Furthermore, zinc-containing and zinc-interacting proteins regulate and/or are regulated by zinc ion homeostasis in both neurons and spermatozoa. Therefore, this review also aims to explore the comparative role of zinc in both neuronal and sperm function. Ongoing studies aim to characterize the products of genes implicated in HD pathogenesis that are expressed in both neurons and spermatozoa to facilitate studies of future treatment avenues in HD and HD-related male infertility. The emerging link between zinc homeostasis and the HD pathway could lead to new treatments and diagnostic methods linking genetic sperm defects with somatic comorbidities.
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影响因子：
6.1
作者：
Dragileva, Ella;Hendricks, Audrey;Teed, Allison;Gillis, Tammy;Lopez, Edith T.;Friedberg, Errol C.;Kucherlapati, Raju;Edelmann, Winfried;Lunetta, Kathryn L.;MacDonald, Marry E.;Wheeler, Vanessa C.
通讯作者：
Wheeler, Vanessa C.
锌在男性生育中的作用。
影响因子：
5.6
作者：
Allouche-Fitoussi D;Breitbart H
通讯作者：
Breitbart H
影响因子：
5.2
作者：
Bucay, Nathan;Yebra, Mayra;Montgomery, Anthony M. P.
通讯作者：
Montgomery, Anthony M. P.
影响因子：
6.1
作者：
Amoako, A. A.;Marczylo, T. H.;Konje, J. C.
通讯作者：
Konje, J. C.
DOI：
10.1530/jrf.0.0610065
发表时间：
1981-01-01
期刊：
JOURNAL OF REPRODUCTION AND FERTILITY
影响因子：
--
作者：
CALVIN, HI
通讯作者：
CALVIN, HI