| Project/Area Number |
08044328
|
|---|
| Research Category |
Grant-in-Aid for international Scientific Research
|
| Allocation Type | Single-year Grants |
|---|
| Section | Joint Research |
|---|
| Research Institution | KAWASAKI MEDICAL SCHOOL |
|---|
Principal Investigator |
YAWATA Yoshihito Kawasaki Medical School, Medicine, Professor, 医学部, 教授 (70069011)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
INOUE Takafumi Kawasaki Medical School, Medicine, Research Associate, 医学部, 助手 (60203238)
WADA Hideho Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (70191830)
KANZAKI Akio Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (40148698)
SUGIHARA Takashi Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (60140505)
YAMADA Osamu Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (50104790)
|
|---|
| Project Period (FY) |
1996
|
| Keywords | Red cell membrane / Cytoskeleton / Hereditary elliptocytosis / Molecular electron microscopy / Band 3 / Band 4.1 / Gene analysis / Hereditary spherocytosis |
|---|
| Research Abstract |
The follwing results were obtained under this research project in the academic year of 1996.
1.Band 3 abnormalities :
(1)In the Okinawa family with hereditary spherocytosis, three mutations ("(1)"K56E : AAG*GAG, "(2)"P854L : CCG*CTG, "(3)"G714R : GGG*AGG) were detected on the allele Okinawa, in addition to a mutation (G130R : GGA*AGA) in the other allele. The following results were obtained under this research project in the academic year of 1996. The compound mutations induced a total absence of protein 4.2 with a partial deficiency of band 3. Phenotypic characteristics in the red were studied by molecular bioligy, biochemical analysis and electron microscopy.
(2)Complete band 3 deficiency in cattle was reported as the first case in this category. The trait suffered from marked acidosis, retarded growth, and striking microspherocytosis.
2.Molecular electron microscopic studies on the impaired cytoskeletal network in complete deficiency of protein 4.1 (4.1 (-) Madrid) :
Protein 4.1 was totally missing in the 4.1 (-) Madrid due to the mutation at the initiation codon (AUG), as previously reported by the French group (Prof. Jean Delaunay). It was proven that the cytoskeletal network was markedly distorted and disrupted by the total absence of protein 4.1 by electron microscopic analysis.
Other results :
Other novel cases of red cell membrane disorders were detected, especially on protein 4.2, and hereditary spherocytosis. The phenotypes and genotypes were clarified on these cases.
|
