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扩大PAICS缺陷的临床谱:对两个兄弟病例的全面分析

Wen-Chin Weng^1,2, Vaclava Skopova³, Veronika Baresova³

¹Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

European journal of human genetics : EJHG

|November 28, 2024

概括

PAICS缺乏症,是一种de novo purin合成障碍,可以导致严重的神经发育问题. 这项研究详细介绍了第二个病例,将已知的临床谱扩展到晚期发病的神经疾病.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍

背景情况:

新生素合成 (DNPS) 对于必需的生物分子至关重要.
DNPS酶的先天性错误会导致神经发育和神经肌肉异常.
PAICS缺乏症是DNPS通路内的罕见疾病.

研究的目的:

报告第二个PAICS缺陷病例.
描述这种缺陷的临床和分子方面.
扩大对PAICS缺乏症临床谱的理解.

主要方法:

对PAICS基因进行遗传分析.
对PAICS基质 (AIr和CAIr) 的生物化学分析.
在PAICS蛋白质变体的模拟中.
对患者纤维细胞中纯素体形成的分析.

主要成果:

确定了双等位基PAICS变体 (p.Ser179Pro和p.Arg403Ter). 这些变体是:
受影响的个体呈现出进展性脑缩,性脑病,精神运动迟缓和视网膜病变.
血和尿液的AIr和CAIr升高,但在纤维细胞中无法检测到.
这些变体损害了PAICS的寡合化,稳定性和活性,导致纤维细胞中缺乏蛋白质.
观察到其他DNPS蛋白质的变化和纯酶体的形成.

结论:

PAICS缺乏症可以表现为晚期发作的神经发育障碍,扩大其已知的临床范围.
这种疾病的罕见性可能源于由于临床认可和测试访问有限而导致的诊断不足.
这一案例凸显了专业诊断对于识别影响氨酸合成的罕见代谢障碍的重要性.

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