To the Editor:Type IV collagen,widely distributed in multiple mammalian tissues,is important for maintaining the structural and functional integrity of vessel basement membranes(BMs).Type IV collagen abnormalities can...To the Editor:Type IV collagen,widely distributed in multiple mammalian tissues,is important for maintaining the structural and functional integrity of vessel basement membranes(BMs).Type IV collagen abnormalities can lead to a series of syndromes,such as Alport(#104200).[1]COL4A1 and COL4A2 encodeα1 andα2 chains of type IV collagen,respectivelyα2(IV)is expressed intracellularly and forms a heterotrimer with theα1(IV)protein at a ratio of 1:2(α1[IV]2α2[IV])in the endoplasmic reticulum(ER).This is secreted extracellularly via the golgi apparatus and vesicles with the aid of intracellular chaperones.[2]Previous studies have shown that variations in COL4A1/2 cause a variety of cerebral small vessel diseases,such as human porencephaly,cerebral hemorrhage,and structural malformations of the cerebral cortex.Moreover,these studies have indicated that COL4A1 variations can cause kidney,eye,and muscle dysfunction.[3]However,whether COL4A2(*120090)plays a role in the auditory system remains unclear.展开更多
基金This study was funded by grants from National Key Research and Development Project of China(No.2022YFC2703602)National Natural Science Foundation of China(Nos.82271177,82271185,and 82171158)Natural Science Foundation of Beijing(No.7242137).
文摘To the Editor:Type IV collagen,widely distributed in multiple mammalian tissues,is important for maintaining the structural and functional integrity of vessel basement membranes(BMs).Type IV collagen abnormalities can lead to a series of syndromes,such as Alport(#104200).[1]COL4A1 and COL4A2 encodeα1 andα2 chains of type IV collagen,respectivelyα2(IV)is expressed intracellularly and forms a heterotrimer with theα1(IV)protein at a ratio of 1:2(α1[IV]2α2[IV])in the endoplasmic reticulum(ER).This is secreted extracellularly via the golgi apparatus and vesicles with the aid of intracellular chaperones.[2]Previous studies have shown that variations in COL4A1/2 cause a variety of cerebral small vessel diseases,such as human porencephaly,cerebral hemorrhage,and structural malformations of the cerebral cortex.Moreover,these studies have indicated that COL4A1 variations can cause kidney,eye,and muscle dysfunction.[3]However,whether COL4A2(*120090)plays a role in the auditory system remains unclear.
