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NIPTなど

NIPT（新型出生前診断）についての情報です。是非参考にしてみてください。

自閉スペクトラム症（ASD）の発症に影響する母体の栄養状態とは？…

2025.08.04
NIPTなど

知らなきゃ損！？妊娠初期に絶対受けたい！最新の出生前検査。

知らなきゃ損！？妊娠初期に絶対受けたい！最新の出生前検査。

A mother gently hugging her child, expressing love and support for autism spectrum disorder（自閉スペクトラム症の子どもをやさしく抱きしめる母親）

常染色体劣性遺伝とは何か？

2025.07.25
NIPTなど

性染色体異数性とは何か？

2025.07.25
NIPTなど

染色体の部分重複とは？

2025.07.25
NIPTなど

学習障害（LD）と遺伝のしくみ：症状・診断・支援のすべて

2025.08.04
NIPTなど

注意欠如多動症（ADHD）と遺伝のしくみ：症状・診断・支援のすべ…

2025.08.04
NIPTなど

ウィリアムズ症候群とは？原因・特徴・検査・支援のすべてを解説

2025.08.04
NIPTなど

フラジャイルX症候群とは？原因・症状・診断・支援体制まで徹底解説…

2025.07.22
NIPTなど

ダウン症候群（21トリソミー）のまとめ【医師監修】

2025.08.04
NIPTなど

An overview of the PI3K/Akt/mTOR intracellular signaling pathway. Different extracellular stimuli, e.g., growth factors and insulin, mediate their effects by binding to receptors belonging to the receptor tyrosine kinase (RTK) family. This leads to activation of phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K). PI3K converts phosphatidylinositol (3,4)-bisphosphate (PIP2) into phosphatidylinositol (3,4,5)-trisphosphate (PIP3), which recruits Akt-kinase and stimulates the Akt phosphorylation by PDK1 and mTORC2, on the Thr308 and Ser473 sites, respectively. The activation of the PI3K/Akt pathway through the inhibition of TSC (tuberous sclerosis complex) leads to the activation of mTORC1. Inhibition of the tuberous sclerosis complex (TSC) results in the loss of its ability to convert the Ras homolog enriched in brain active form (RhebGTP) to the inactive GDP-bound form (Rheb-GDP) leading to the subsequent activation of mTORC1. PTEN acts antagonistically to PI3K in conversion of PIP2 to PIP3, functioning as an important negative control. Activation of mTORC1 leads to phosphorylation of p70 ribosomal protein S6 kinase (p70S6K) and 4EBP1 (eukaryotic initiation factor 4E-binding protein) which, in turn, phosphorylates the ribosomal protein S6 leading to protein translation and synthesis. Active mTORC1 blocks autophagy by inhibitory phosphorylation of the ULK1 complex comprising of autophagy-related proteins (UNC51-like kinase 1 (ULK1), the autophagy-related gene 13 (Atg13), and FAK-family interacting protein of 200 kDa (FIP200). 4E-BP1 prevents translation initiation by sequestering eukaryotic translation initiation factor 4E (eIF4E). mTOR phosphorylates the eukaryotic initiation factor 4E-binding protein 1 (4E-BP1), thereby preventing it from binding to eIF4E, thus liberating eIF4E to enable translation. FMRP (fragile X mental retardation protein) is the protein produced by FMR1gene. FMRP binds to CYFIP1 (cytoplasmic FMRP-interacting protein 1) to form FMRP-CYFIP1 complex that obstructs translation by binding to eIF4E, which is obliterated in fragile X syndrome. Fig 1. Thomas, Shilu Deepa, et al. ‘mTOR Signaling Disruption and Its Association with the Development of Autism Spectrum Disorder’. Molecules, vol. 28, no. 4, Feb. 2023, p. 1889. DOI.org (Crossref), https://doi.org/10.3390/molecules28041889.

自閉スペクトラム症の科学：mTOR経路と発達障害のつながり

2025.07.18
NIPTなど

シスタチオニンβ-シンターゼ欠損によるホモシスチン尿症【CBS】…

2025.08.26
NIPTなど

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