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Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation

Pediatric Investigation 2019年第2期3卷 122-126页

作者： Shiyue Mei Chao Ma Yibing Cheng Suyun Qian Zhipeng Jin Department of Intensive Care Unit Henan provincial key laboratory of children's genetics and metabolic diseasesChildren's Hospital Affiliated to Zhengzhou UniversityZhengzhou Children's HospitalZhengzhouHenanChina Department of Intensive Care Unit Children's Hospital Affiliated to Zhengzhou UniversityZhengzhou Children's HospitalZhengzhouHenanChina Department of Pediatric Critical Care Medicine Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina

Introduction:fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and *** presentation:We describe two brothers with FBPase *** proband developed severe hypoglycemia and progressed to status epilepticus,and the brother showed slightly hypoglycemia with a good *** exome sequencing (WES) identified compound heterozygous variants [c.333+1333+2delinsTC and c.490G>A (***164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers,which were inherited from the father and the mother,***:Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

关键词： fructose-1,6-bisphosphatase deficiency Hypoglycemia Status epilepticus FBP1 Mutation

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fructose-1,6-bisphosphatase Regulates Glucose-Stimulated Insulin Secretion Of Mouse Pancreatic Beta Cells

Fructose-1,6-Bisphosphatase Regulates Glucose-Stimulated Ins...

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中国病理生理学会受体、肿瘤和免疫专业委员会联合学术会议

作者： Ye Zhang,Zhifang Xie,Guangdi Zhou,Hai Zhang,Jian Lu,Weiping J.Zhang Department of Pathophysiology,Second Military Medical University

Pancreaticβcells can precisely sense glucose stimulation and accordingly adjust their insulin ***-1,6-bisphosphatase(FBPase) is a gluconeogenic enzyme,but its physiological significance inβcells is not *** we determined its physiological role in regulating glucose sensing and insulin secretion ofβ*** FBPase was detected in normal mouse islets andβcell *** of FBP1 in MIN6 cells by siRNA led to enhanced glucose stimulated insulin secretion(GSIS),while FBP1-overexpressing MIN6 cells exhibited decreased *** of FBPase activity by specific inhibitor MB05032 significantly increased cellular ATP/ADP ratio,and enhanced GSIS both in vitro and in ***,FBPase is an important regulator of isletβcells controlling glucose sensing and insulin secretion,and serves a promising target for diabetes treatment.

关键词： fructose-1,6-bisphosphatase Mouse Pancreatic Beta Cells

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Vacuole import and degradation pathway: Insights into a specialized autophagy pathway

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World Journal of Biological Chemistry 2011年第11期2卷 239-245页

作者： Abbas A Alibhoy Hui-Ling Chiang Department of Cellular and Molecular Physiology Penn State University College of Medicine

Glucose deprivation induces the synthesis of pivotagluconeogenic enzymes such as fructose-1,6-bisphos-phatase, malate dehydrogenase, phosphoenolpyruvatecarboxykinase and isocitrate lyase in Saccharomycescerevisiae. However, following glucose replenishment,these gluconeogenic enzymes are inactivated and de-graded. Studies have characterized the mechanismsby which these enzymes are inactivated in response toglucose. The site of degradation of these proteins hasalso been ascertained to be dependent on the dura-tion of starvation. Glucose replenishment of short-termstarved cells results in these proteins being degradedin the proteasome. In contrast, addition of glucose tocells starved for a prolonged period results in theseproteins being degraded in the vacuole. In the vacuoledependent pathway, these proteins are sequestered inspecialized vesicles termed vacuole import and degra-dation (Vid). These vesicles converge with the endo-cytic pathway and deliver their cargo to the vacuolefor degradation. Recent studies have identified thatinternalization, as mediated by actin polymerization, isessential for delivery of cargo proteins to the vacuolefor degradation. In addition, components of the targetof rapamycin complex 1 interact with cargo proteins during glucose starvation. Furthermore, Tor1p dissoci-ates from cargo proteins following glucose replenish-ment. Future studies will be needed to elaborate on the importance of internalization at the plasma membrane and the subsequent import of cargo proteins into Vid vesicles in the vacuole dependent degradation pathway.

关键词： Vacuole import and degradation fructose-1,6-bisphosphatase Vacuole Proteasome Autophagy Target of rapamycin complex 1 Actin polymerization Endocytosis

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