PDZD2 and Primary Open-Angle Glaucoma: Study of rs72759609 in Human NT2 Cells and Glaucoma-Like Phenotypes in Pdzd2-Deficient Mice

PDZD2 和原發性開角型青光眼：人類 NT2 細胞中 rs72759609 和 Pdzd2 缺陷小鼠中青光眼樣表型的研究

 

Data suggest an increase in PDZD2 expression due to polymorphism at the intronic regulatory region positively modulates Hedgehog signaling and elevates the risk of developing POAG, whereas deficiency of PDZD2 in Pdzd2 mutant mice also leads to aberrant eye phenotypes, indicating that both increased and declined PDZD2 levels can possibly result in glaucoma.

數據指出，由於內含子調節區的多態性導致 PDZD2 表達增加，從而正向調節 Hedgehog 信號並增加發生 POAG 的風險，而 Pdzd2 突變小鼠中 PDZD2 的缺乏也會導致異常的眼表型，表明增加或減少 PDZD2 水平可能導致青光眼。

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H&E staining demonstrated a reduced number of retinal ganglion cells (RGCs) at the peripheral retina in 2-month-old Pdzd2 heterozygous (Het) and homozygous (Hom) mice when compared to WT littermate. White arrow heads indicated the positions of 5 RGCs in each section, suggesting lower densities of RGCs in Pdzd2-deficient mice.

與 WT 同窩小鼠相比，H&E 染色顯示 2 個月大的 Pdzd2 雜合子 (Het) 和純合子 (Hom) 小鼠周圍視網膜的視網膜神經節細胞 (RGC) 數量減少。 白色箭頭表示每個小圖中 5 個 RGC 的位置，表明 Pdzd2 缺陷小鼠中 RGC 的密度較低。