DLD 基因功能丧失突变导致 MSUD3/DLDD
中文名称
通路描述
DLD 基因的功能丧失突变与 DLDD（二氢脂酰脱氢酶缺乏症）相关，这是一种常染色体隐性遗传病，以乳酸酸中毒和神经恶化为特征（综述自 Quinonez et al, 2021）。由于 DLDD 对 BCKDH 功能的效应，有时被称为肉桂醛尿病 3 型，但其表型不同，因为 DLD 参与多个蛋白质复合物（综述自 Strauss et al, 2020）。DLD 编码 BCKDH（支链氨基酸脱氢酶）、KGDH（α-酮戊二酸脱氢酶）和 PDH（丙酮酸脱氢酶）的多蛋白复合物中的共享 E3 组分。因此，DLD 基因突变具有多效性，临床表现多样，包括α-酮酸尿排泄增加、丙酮酸和血浆支链氨基酸蓄积（综述自 Quinonez and Thoene, 2021）。DLD 突变常为复合杂合子，使致病效应判定复杂化。此外，体内表型效应的严重程度与体外残留 DLD 酶活性程度不成线性相关（Shany et al, 1999; Cameron et al, 2006; Quinonez et al, 2013; 综述自 Quinonez and Thoene, 2021）。
英文描述
G2/M Checkpoints G2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they follow normal transition to the M phase. However, if any of these checkpoints fail, mitotic entry is prevented by specific G2/M checkpoint events.The G2/M checkpoints can fail due to the presence of unreplicated DNA or damaged DNA. In such instances, the cyclin-dependent kinase, Cdc2(Cdk1), is maintained in its inactive, phosphorylated state, and mitotic entry is prevented. Events that ensure that origins of DNA replication fire once and only once per cell cycle are also an example of a G2/M checkpoint.In the event of high levels of DNA damage, the cells may also be directed to undergo apopotosis (not covered).
所含基因
37 个基因