Aquaporin 4 expression was decreased significantly in cerebellum.
自閉症患者小腦中水通道蛋白4(AQP-4)的表達顯著下降。
當拓撲異構酶整個結構被破壞掉,幾個與自閉症有關的長段基因也會連帶破損、
產生自閉症,這是醫界首次證實拓撲異構酶與自閉症相關
是一種異構酶,能使DNA長鏈斷裂與接合。專門參與DNA拓撲構形(DNA topology)
改變的過程
拓撲異構酶抑制劑可活化腦中休眠後,進一步解開「拓撲異構酶」與自閉症關係
拓撲異構酶抑制劑可對長基因轉錄,造成嚴重破壞
許多高可信度的自閉症候選基因,有非常明顯的基因長度,且這些基因表現量,
在抑制拓撲異構酶之後,都顯著下降。
Besides other factors, the physiological environment is known
to affect substantially the biological properties of topoisomerases,
a key role being played by metal ion cofactors, especially divalent
ions (Mg2+)
除了其他因素外,已知生理環境基本上影響拓撲異構酶的生物學特性,
金屬離子輔因子尤其是二價離子(鎂Mg2 +)起著關鍵作用
All type II topoisomerases require divalent metal ions to cleave
and ligate DNA.
所有II型拓撲異構酶都需要二價金屬離子來切割和連接DNA。
manganese and cobalt are also able to stimulate topoisomerase II-mediated
single-stranded cleavage,whereas mainly double-stranded cleavage occurs
in the presence of magnesium.
錳和鈷也能夠刺激拓撲異構酶II介導的單鏈切割,而主要雙鏈切割發生在鎂的存在下。
TOP2A and TOP2B are type II topoisomerase enzymes that
have important but distinct roles in DNA replication and RNA transcription.
TOP2A和TOP2B是II型拓撲異構酶,在DNA複製和RNA轉錄中具有重要但不同的作用。
Recently, TOP2B has been implicated in the transcription of long genes
in particular that play crucial roles in neural development and are
susceptible to mutations contributing to neurodevelopmental conditions
such as autism and schizophrenia.
最近,TOP2B涉及長基因的轉錄,特別是在神經發育中起關鍵作用
並且易於導致神經發育狀況的突變如自閉症和精神分裂症
TOP2A and TOP2B mRNA expressed at the apical
surface of the VZ(ventricular zone), and TOP2B expressed throughout the cortex
TOP2B在整個腦皮質表達
和精神病有關的營養II
維它命B12(鈷胺素)缺乏症,其症狀也包括喪失記憶、腦障礙
錳(Mn)提升了水通道蛋白AQP-4(aquaporin-4)的膜表達