Reale Chiara, Invernizzi Federica, Panteghini Celeste, Garavaglia Barbara
Medical Genetics and Neurogenetics Unit, Fondazione IRCCS, Istituto Neurologico "C. Besta", Milan, Italy.
J Neurosci Res. 2023 May;101(5):553-562. doi: 10.1002/jnr.24945. Epub 2021 Sep 9.
This review aims to give an overview of what has been discovered so far and what still needs to be analyzed about how sex and gender affect the disease development. These two terms are often confused and indifferently used. In principle, the term "sex" refers to biological differences between males and females, specifically reproductive organs and their functions, while the term "gender" refers to the social context in which people live and which contributes to a subjective sexual identity, masculine or feminine. This dichotomy, however, is not so rigid and both sex and gender influence different aspects of human health, such as brain, health and aging and drug treatment and pharmacokinetics. In particular, we want to focus on genetic differences between men and women: indeed, the expression of the genes mapped on X chromosome or Y chromosome and all epigenetic interactions affect the diseases development. Finally, we will briefly outline sex and gender differences in clinical manifestations of three neurological diseases: Alzheimer's disease, Parkinson's disease, and obsessive compulsive disorder. In the era of personalized medicine, we must not forget the importance of gender medicine to promote personalized care for any kind of patients.
本综述旨在概述迄今为止在性别如何影响疾病发展方面已发现的内容以及仍需分析的内容。这两个术语经常被混淆且被随意使用。原则上，“性”一词指男性和女性之间的生物学差异，具体指生殖器官及其功能，而“性别”一词指人们生活的社会环境，这种环境促成了主观的性别认同，即男性化或女性化。然而，这种二分法并非如此严格，性和性别都会影响人类健康的不同方面，如大脑、健康与衰老以及药物治疗和药代动力学。特别是，我们想关注男性和女性之间的基因差异：确实，位于X染色体或Y染色体上的基因表达以及所有表观遗传相互作用都会影响疾病发展。最后，我们将简要概述三种神经疾病——阿尔茨海默病、帕金森病和强迫症——在临床表现方面的性别差异。在个性化医疗时代，我们绝不能忽视性别医学对于促进针对各类患者的个性化护理的重要性。
