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ダウンロード数 : ?
ID 83835
著者
Yao, Dengbing Division of Enzyme Chemistry, Institute for Enzyme Research, the University of Tokushima
Yao, Min Division of Enzyme Chemistry, Institute for Enzyme Research, the University of Tokushima
ヤマグチ, ミヨコ Division of Enzyme Chemistry, Institute for Enzyme Research, the University of Tokushima
千田, 淳司 Division of Enzyme Chemistry, Institute for Enzyme Research, the University of Tokushima 徳島大学 教育研究者総覧 KAKEN研究者をさがす
木戸, 博 Division of Enzyme Chemistry, Institute for Enzyme Research, the University of Tokushima 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
carnitine palmitoyltransferase-II
missense mutation
half-life
COS-7 cells
資料タイプ
学術雑誌論文
抄録
Background : 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. Objective : 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. Methods : CPT II mutations in the patient and his family were expressed in
COS-7 cells and their molecular masses, enzyme activities, thermal instabilities and halflives
were analyzed. Results : 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.G249
EfsX16)] abolished enzyme activity and showed short half-life. Conclusion : 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.
掲載誌名
The journal of medical investigation : JMI
ISSN
13431420
cat書誌ID
AA11166929
58
3-4
開始ページ
210
終了ページ
218
並び順
210
発行日
2011-08
備考
The journal of medical investigation : http://medical.med.tokushima-u.ac.jp/jmi/index.html
EDB ID
フルテキストファイル
言語
eng
部局
先端酵素学研究所