دورية أكاديمية
AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures
| العنوان: | AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures |
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| المؤلفون: | Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda |
| المصدر: | Biomolecules, Vol 10, Iss 8, p 1100 (2020) |
| بيانات النشر: | MDPI AG, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Microbiology |
| مصطلحات موضوعية: | adult-onset type II citrullinemia (CTLN2), aspartate/glutamate carrier (AGC), animal model, argininosuccinate synthetase (ASS), aversion to carbohydrates, citrin, Microbiology, QR1-502 |
| الوصف: | Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates intake excess and this disease is now known as a pan-ethnic disease. AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to cytosol in exchange with glutamate (Glu) and H+. Asp is originally supplied from mitochondria to cytosol where it is necessary for synthesis of proteins, nucleotides, and urea. In cytosol, Asp can be synthesized from oxaloacetate and Glu by cytosolic Asp aminotransferase, but oxaloacetate formation is limited by the amount of NAD+. This means an increase in NADH causes suppression of Asp formation in the cytosol. Metabolism of carbohydrates and other substances which produce cytosolic NADH such as alcohol and glycerol suppress oxaloacetate formation. It is forced under citrin deficiency since citrin is a member of malate/Asp shuttle. In this review, we will describe history of identification of the SLC25A13 gene as the causative gene for adult-onset type II citrullinemia (CTLN2), a type of citrin deficiency, pathophysiology of citrin deficiency together with animal models and possible treatments for citrin deficiency newly developing. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 10081100 2218-273X |
| Relation: | https://www.mdpi.com/2218-273X/10/8/1100; https://doaj.org/toc/2218-273X |
| DOI: | 10.3390/biom10081100 |
| URL الوصول: | https://doaj.org/article/9c01632737ec497694b63535af6fda9a |
| رقم الأكسشن: | edsdoj.9c01632737ec497694b63535af6fda9a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 10081100 2218273X |
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| DOI: | 10.3390/biom10081100 |