徳島大学 教育・研究者情報データベース(EDB)

1. 徳島大学.疾患酵素学研究センター(2007年4月1日〜2016年3月31日/->組織[徳島大学.先端酵素学研究所.次世代酵素学研究領域])

1. Yao Dengbing

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2. Yao Min

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3. (英) Yamaguchi Miyoko

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4. 千田 淳司([徳島大学.先端酵素学研究所.基幹研究部門])

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5. 木戸 博([徳島大学.先端酵素学研究所.重点研究部門])

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(英) Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy

(英) In mammals, carnitine palmitoyltransferase (CPT) system is a pivotal component of energy metabolism through mitochondrial fatty acid oxidation. The majority of patients with fatal or handicapped influenza-associated encephalopathy exhibit thermolabile compound homo/heterozygous mutations of CPT II. Compound CPT II mutations, [c.647A>G (p.Q216R)], [c.1102G>A (p.V368I)], [c.1939A>G (p.M647V)] and [c.745delG (p.G249EfsX16)], were found in a patient with adenovirus-associated encephalopathy and his family. The properties of these CPT II mutations were analyzed in COS-7 cells. CPT II mutations in the patient and his family were expressed in COS-7 cells and their molecular masses, enzyme activities, thermal instabilities and half-lives were analyzed. We identified two novel CPT II mutations in the patient, [c.647A>G (p.Q216R)] and [c.745delG (p.G249EfsX16)]. The CPT II Q216R mutation showed mild reduction of activity, thermal instability and short half-life but compound mutations with Q216R+V368I+M647V showed further enhancement of these disabilities, although mutations V368I and M647V had no such effects. CPT II mutation [c.745delG (p.G249EfsX16)] abolished enzyme activity and showed short half-life. The thermal instability and short half-life of the novel CPT II mutations, [c.647A>G (p.Q216R)] and [c.745delG (p.G249EfsX16)], could play important roles in energy crisis in the pathogenesis of virus-associated encephalopathy.

1. (英) Adenosine Triphosphate
2. (英) Adenoviridae Infections
3. (英) Amino Acid Sequence
4. (英) Animals
5. (英) Base Sequence
6. (英) Blotting, Western
7. (英) COS Cells
8. (英) Carnitine O-Palmitoyltransferase
9. (英) Cercopithecus aethiops
10. (英) Child, Preschool
11. (英) Encephalitis, Viral
12. (英) Enzyme Stability
13. (英) Gene Deletion
14. (英) Humans
15. (英) Molecular Sequence Data
16. (英) Mutation, Missense

1. (英) Article.Affiliation: Division of Enzyme Chemistry, Institute for Enzyme Research, University of Tokushima, Tokushima, Japan.

2. (英) Article.PublicationTypeList.PublicationType: Case Reports

3. (英) Article.PublicationTypeList.PublicationType: Journal Article

4. (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't