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首页> 外文期刊>Neuron >Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

机译：天冬酰胺合成酶的缺乏会导致先天性小头畸形和进行性脑病

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We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function. Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show deficits in learning and memory mimicking aspects of the patient phenotype. ASNS encodes asparagine synthetase, which catalyzes the synthesis of asparagine from glutamine and aspartate. The neurological impairment resulting from ASNS deficiency may be explained by asparagine depletion in the brain or by accumulation of aspartate/glutamate leading to enhanced excitability and neuronal damage. Our study thus indicates that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.
机译：我们分析了表现出先天性小头畸形，智力残疾，进行性脑萎缩和顽固性癫痫发作特征相似的四个家庭。我们表明，ASNS基因的隐性突变是导致这种综合征的原因。鉴定出的两个错义突变显着降低了ASNS蛋白的丰度，表明该突变导致功能丧失。亚型Asns突变小鼠具有大脑结构异常，包括脑室增大和皮质厚度降低，并且在模仿患者表型的学习和记忆方面表现出缺陷。 ASNS编码天冬酰胺合成酶，该酶催化谷氨酰胺和天冬氨酸合成天冬酰胺。由ASNS缺乏引起的神经功能障碍可以用大脑中的天冬酰胺消耗或天冬氨酸/谷氨酸的积累导致兴奋性增加和神经元损伤来解释。因此，我们的研究表明天冬酰胺合成对于大脑的发育和功能至关重要，而对其他器官则不重要。

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