1995 Fiscal Year Final Research Report Summary
MOLECULAR INVESTIGATION OF PEROXISOMAL beta-OXIDATION ENZYME DEFICIENCIES
| Project/Area Number |
06670781
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | GIFU UNIVERSITY |
|---|
Principal Investigator |
SUZUKI Yasuyuki GIFU UNIVERSITY,SCHOOL OF MEDICINE,DEPARTMENT OF PEDIATRICS,ASSISTANT PROFESSOR, 医学部附属病院, 講師 (00163014)
|
|---|
| Project Period (FY) |
1994 – 1995
|
| Keywords | PEROXISOMES / beta-OXIDATION / ACYL-CoA OXIDASE / BIFUNCTIONAL ENZYME / GENE MUTATION |
|---|
| Research Abstract |
cDNAs for human acyl-CoA oxidase and bifunctional enzyme were cloned. Acyl-CoA oxidase cDNA has SKL motif and encodes 661 amino acids with high homology to rat enzyme. Consanguineous siblings with acyl-CoA oxidase deficieency had a homozygous exonic point mutation which resulted in an amino acid substitution (M278V). Cloned cDNA for bifunctional enzyme encodes 772 amino acids. A patient with bifunctional enzyme deficiency had a point mutation (A274T). These results will facilitate DNA diagnosis and gene therapy for these disorders.
|
-
-
-
-
-
-
-
-
-
-
[Publications] Y Suzuki, N Shimozawa, S Yajima, S Tomatsu, N Kondo, Y Nakada, S Akaboshi, M Iai, Y Tanabe, T Hashimoto, R.J.A.Wanders, R.B.H.Schutgens, H.W.Moser, T Orii: "Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein : identification by means of complementation analysis" AM J Hum Genet. 54. 36-43 (1994)
Description
「研究成果報告書概要(欧文)」より
-
-
-
[Publications] T Tsukamoto, S Miura, T Nakai, S Yokota, N Shimozawa, Y Suzuki, T Orii, Y Fujiki, F Sakai, A Bogaki, H Yasumo, T Osumi: "Peroxisome assembly factor-2 ; a putative ATPase cloned by functional complementation on a peroxisome-deficient mammarian cell mutant" Nature Genetics. 11. 395-401 (1995)
Description
「研究成果報告書概要(欧文)」より
-
-
