A study on the diagnosis and pathophysiology of carnitine deficiency
| Project/Area Number |
21790990
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Shimane University |
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Principal Investigator |
KOBAYASHI Hironori Shimane University, 医学部, 助教 (70397868)
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| Project Period (FY) |
2009 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2009: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 脂質 / ゲノム / 分析科学 / カルニチン / タンデムマス / アシルカルニチン |
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| Research Abstract |
Deficiency of carnitine transporter, a product of OCTN2 gene, causes a primary carnitine deficiency. First, this study surveyed the prevalence and clinical presentation of OCTN2 deficiency among the carnitine deficiency. Acylcarnitine analysis identified 269 cases of carnitine deficiency out of 2,694 subjects. Two cases had heterozygous mutation, S467C/WT and V465A/WT, respectively. This result suggests that catabolic state upon infection or poor nutrition can trigger metabolic decompensation even in the heterozygous carrier of OCTN2 mutation.
Second, our study established a method for functional analysis of carnitine transporter using cultured skin fibroblast. The ratio of intracellular carnitine/extracellular free carnitine in OCTN2 deficiency was significantly lower than in normal controls. This method also enables to evaluate intracellular acylcarnitine profile simultaneously as well as extracellular acylcarnitine profile using conventional method. Further application of this strategy for the functional analysis of fatty acid oxidation is expected.
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Report
(3 results)
Research Products
(46 results)
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[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening.2011
Author(s)
Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.
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Journal Title
Mol Genet Metab. 102(4)
Pages: 399-406
Related Report
Peer Reviewed
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[Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.2010
Author(s)
Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.
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Journal Title
Mol Genet Metab. 100(1)
Pages: 37-41
Related Report
Peer Reviewed
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[Journal Article] 中鎖アシルCoA脱水素酵素欠損症日本人5症例の発症形態の検討2009
Author(s)
虫本雄一, 小林弘典, 長谷川有紀, 李紅, 福田誠司, 近藤陽一, 脇口宏, 藤枝幹也, 高杉尚志, 山口結, 吉良龍太郎, 原寿郎, 山口清次
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Journal Title
日本小児科学会雑誌 113(1)
Pages: 1800-1804
NAID
Related Report
Peer Reviewed
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