Division of Animal Science, University of Missouri, Columbia, MO 65211, USA.
Department of Animal Science, Iowa State University, Ames, IA 50011, USA.
Int J Mol Sci. 2022 Jun 28;23(13):7163. doi: 10.3390/ijms23137163.
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.
亨廷顿病(HD)是一种致命的常染色体显性神经退行性疾病,表现为运动功能障碍和认知缺陷。HD 动物模型和 HD 男性患者的生育能力也下降,这是由于精子发生和精子功能改变,从而导致受精能力降低。尽管目前有一些药物可用于减轻 HD 症状,但尚未获得 FDA 批准用于治疗该疾病的有效方法。鉴定基因和相关诊断生物标志物以及治疗靶途径,包括糖酵解和依赖线粒体复合物 I 的呼吸,可能有利于疾病的早期诊断、管理和治疗。本综述探讨了神经元和精子代谢中的 HD 途径,包括神经元和精子中相关基因和蛋白的表达,这些都与 HD 的发病机制有关。此外,含锌蛋白和锌相互作用蛋白在神经元和精子中调节锌离子稳态,并受锌离子稳态的调节。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描述在神经元和精子中表达的与 HD 发病机制相关的基因产物,以促进 HD 和与 HD 相关的男性不育症的未来治疗方法的研究。锌稳态与 HD 途径之间的新联系可能会带来新的治疗方法和诊断方法,将遗传精子缺陷与躯体合并症联系起来。