1997 Fiscal Year Final Research Report Summary
Brain type CPT II Deficiency ; CPT II analysis in the brain and its gene mutations.
| Project/Area Number |
07670876
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kumamoto Univ. |
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Principal Investigator |
OHTANI Yoshinobu Kumamoto Univ.Med.School, Department of Child Development, Assistant Professer, 医学部, 助教授 (10168982)
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| Co-Investigator(Kenkyū-buntansha) |
GOTO Yu-ichi National Institute of Neuroscience, National Center of Neurology and Psychiatry,, 微細構造研究部, 室長 (20225668)
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| Project Period (FY) |
1995 – 1997
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| Keywords | CPT II deficiency / CNS form of CPT II / gene analysis / brain dysfunction |
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| Research Abstract |
Carnitine palmitoyltransferase II (CPT II) may have three different clinical forms, with "muscular" and "hepatic" and "CNS " symptoms. We studied the molecular basis of the "CNS " form in two Japanese siblings (Brain & Dev.1994 ; 16 : 139-145). Liver type CPT II antibody showed no reaction on the human brain tissue. It seems that "CNS " type of CPT II may be different isoform of liver type CPT II.
Unfortuately, we could not purify the CNS type CPT II from human brain, so we could not get the antibody of CNS type CPT II.
cDNA analysis showed that the proband was a compound heterozygote. One allele carried a mutation, (Val-368-Ile). The other carried a new mutation (Phe-352-Cys). Secondary structure prediction analysis of the muted CPT II protein was different from that of the normal protein. We concluded that these mutations caused the "CNS " form of CPT II deficiency in the proband.
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