Researchers report on a treatment approach that could normalize social behavior in autism
研究人員們提出了一種，可能使自閉症社交行為，正常化的治療方法報告。
A team of researchers at the Biozentrum, University of Basel, has discovered a new connection between a genetic alteration and social difficulties related to autism: A mutation in the neuroligin-3 gene reduces the effect of the hormone oxytocin. In the journal Nature, the researchers report on a treatment approach that could normalize social behavior in autism. They have already achieved promising results in an animal model.
於瑞士巴塞爾大學生物中心的一支研究人員團隊已經發現一種，基因突變與自閉症有關之社交困難間的新關聯性：在神經膠蛋白-3(Neuroligin-3)基因中的突變，降低了催產素荷爾蒙的作用。在《自然》期刊中，此些研究人員提出了一種，可能使自閉症社交行為，正常化的治療方法。在動物模型中，他們已經獲得了有指望的成果。
Autism occurs in about one percent of the population and is characterized by alterations in communication, repetitive behavior and social difficulties. There are numerous genetic factors involved in the development of autism. Hundreds of different genes have been identified, including the gene encoding the synaptic adhesion molecule neuroligin-3.
自閉症發生於大約百分之一的人口中，特徵是溝通方式改變、重複行為及社交困難。在自閉症的發展中，涉及了諸多遺傳因素。已經被確認出數百種不同基因，包括為突觸粘附分子Neuroligin-3編碼的基因。
The mechanisms by which this large variety of genetic alterations is related to the symptoms of autism are still largely unknown and is one of the major challenges in the development of new treatments.
該與自閉症諸多症狀有關聯之各種遺傳突變的機制，大部分仍然不詳。因此，在開發新療法上，是諸多主要挑戰之一。
The research team led by Professor Peter Scheiffele at the Biozentrum of the University of Basel has now uncovered an unexpected link between neuroligin-3, a gene that contributes to the likelihood of autism, and the oxytocin signaling pathway in a mouse model. The hormone oxytocin regulates social behavior in mammals, in particular social interactions.
該項由巴塞爾大學生物中心，Peter Scheiffele教授領導的研究，目前已經揭露了，在一種小鼠模型中，可能導致自閉症之基因，neuroligin-3與催產素發信號途徑之間，一種意想不到的關聯性。在哺乳動物中，催產素這種荷爾蒙調節社交行為，特別是社交互動。
Mice with mutations in certain genes which display a typical behavior linked to autism in humans are used as a model system to study autism and help scientists to learn more about the biology of this condition in humans.
在展現與人類自閉症有關之典型行為的某些基因中，具有突變體的小鼠，被使用作為一種模型系統，來研究自閉症及協助科學家們，獲悉更多有關這種疾病，於人類中的生物學。
In such a mouse model, Scheiffele's team has demonstrated for the first time that an autism associated mutation in the neuroligin-3 gene disrupts the oxytocin signaling pathway in the neurons of the brain's reward system in mice and, as a consequence, reduces social interactions between mice. Unexpectedly, loss of neuroligin affects the balance of protein synthesis in these neurons and thus the neuronal responses to oxytocin.
在此類小鼠模型中，Scheiffele的團隊已經首度證實，在neuroligin-3基因中，一種與自閉症相關聯的突變體擾亂了，小鼠大腦獎償系統之神經元中的催產素發信號途徑，及因此減少小鼠之間的社交互動。意想不到的是，神經膠蛋白的喪失會影響，此些神經元中蛋白質合成的平衡，並從而影響這種神經元對催產素的反應。
It was already speculated that signals mediated by oxytocin could possibly play a role in autism. "However, we were very surprised to discover that mutations in neuroligin-3 impair oxytocin signaling pathways. We have succeeded in putting together two puzzle pieces of the mechanisms underlying autism," says Scheiffele.
已經被推測，由催產素介導的信號，可能在自閉症中扮演一種角色。Scheiffele宣稱：「不過，我們很訝異地發現，neuroligin-3中的突變體會削弱，催產素的發信號途徑。我們已經成功併湊了，潛藏於自閉症中之機制的兩個謎團。」
Furthermore, the research team demonstrated that alterations in the oxytocin system in mice with a neuroligin-3 mutation can be restored by treatment with a pharmacological inhibitor of protein synthesis. This treatment normalized the social behavior of the mice: Like their healthy conspecifics, they reacted differently to familiar mice or mice foreign to them.
此外，該研究團隊證實，藉由使用一種藥理學上之蛋白質合成抑制物的療法，能恢復具有neuroligin-3突變體之小鼠催產素系統中的變化。這種療法正常化了此些小鼠的社交行為：也就是，與其健康的同種動物一樣，牠們對熟悉或外來之小鼠，不同地作出反應。
Importantly, the same inhibitor also improved behavioral symptoms in a second rodent model of autism, indicating that it could be more widely applied in the treatment of autism.
更重要的是，此相同抑制物也改善了，在第二種自閉症囓齒動物模型中的行為症狀。顯示，其可能更廣泛地被施用於自閉症的療法中。
The newly discovered convergence between three important elements -- a genetic factor, the changes in neuronal protein synthesis, and the regulation of social behavior by the oxytocin system -sheds some light onto how multiple factors implicated in autism may be connected.
該在遺傳因素、神經元蛋白質合成的改變及社交行為由催產素系統調節，這三項重要要素之間，新近發現的趨同作用，闡明了與自閉症有關的多種因素，如何能被聯繫起來。
In addition, the findings may open new approaches for the treatment of certain aspects of social behavior in some cases of autism, where this is desirable.
此外，這是可望的。此些研究發現可能為，某些自閉症病例之某些社會行為方面的療法，開闢新的方法。
原文網址：https://www.sciencedaily.com/releases/2020/08/200805124054.htm
翻譯：許東榮
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