1997 Fiscal Year Final Research Report Summary
Molecular basis of the inherited mucopolysaccharidoses : development of an effective therapy
| Project/Area Number |
08670869
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Gifu University |
|---|
Principal Investigator |
SUKEGAWA Kazuko Gifu University, School of Medicine, Research Associate, 医学部, 助手 (60115409)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
FUKUDA Seiji Gifu University, School of Medicine, Research Associate, 医学部, 助手 (30273147)
|
|---|
| Project Period (FY) |
1996 – 1997
|
| Keywords | mucopolysaccharidoses / mutation analysis / GALNS gene cloning / X chromosome inactivation |
|---|
| Research Abstract |
1. Several gene mutations were identified in Japanese patients with MPS I.The common mutation 704ins5 found only in Japanese population was noted.
2. Molecular basis of iduronate-2-sulfatase deficiency have been analyzed in 71 Japanese patients with MPS II,twenty-five different gene mutations were characterized.
3. Nearly 180 patients with MPS IVA have been supplied by international cooperative study, 90 various kinds of gene mutations have been defined. Especially, two different common mutations, I113F and a double gene deletion had been identified in respective specific populations. We also found other common mutations G301C in Colombian patients and I113F in Australian patients. These findings were useful information to determine the origin of mutations and the genetic background of these patients.
4. MPS II (Hunter disease) is an X-linked recessive disorder and documentation of a female with Hunter disease is extremely rare. We reported two Japanese girls with Hunter disease and we considered that the disease in these girls was the results of an inherited exonic point mutation in the iduronate -2-sulfatase gene on her maternal allele and skewed X inactivation of the non-mtutant paternal X chromosome respectively.
5. cDNA for mouse GALNS (N-acetylgalactosamine-6-sulfate sulfatase) has been cloned and genomic DNA was cloned to prepare the animal model with MPS IVA.Chromosomal localization of GALNS was determined to be 8. We are going to analyze the character of these clones.
|
-
-
-
-
-
-
-
[Publications] Tomatsu S,Fukuda S,Yamagishi A,Cooper A,Wraith JE,Hori T,Kato Z,Yamada N,Isogai K,Sukegawa K,Kondo N,Suzuki Y,Shimozawa N,Orii T: "Mucopolysaccharidosis IVA : Four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency" Am J Hum Genet. 58. 950-962 (1996)
Description
「研究成果報告書概要(欧文)」より
-
-
[Publications] Sukegawa K,Song X-Q,Masuno M,Fukao T,Shimozawa N,Fukuda S,Isogai K,Nishio H,Matsuo M,Tomatsu S,Kondo N,Orii T: "Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele" Hum Mutat. 10. 361-367 (1997)
Description
「研究成果報告書概要(欧文)」より
-
[Publications] Tomatsu S,Fukuda S,Cooper A,Wraith JE,Ferreira P,Di Natale P,Tortora P,Fujimoto A,Kato Z,Yamada N,Isogai K,Yamagishi A,Sukegawa K,Suzuki Y,Shimozawa N,Kondo N,Sly WS,Orii T: "Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene" Hum Mutat. 10. 368-375 (1997)
Description
「研究成果報告書概要(欧文)」より
-
[Publications] Kato Z,Fukuda S,Tomatsu S,Vega H,Yasunaga T,Yamagishi A,Yamada N,Valencia A,Barrera LA,Sukegawa K,Orii T,Kondo N: "A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA" Hum Genet. 101. 97-101 (1997)
Description
「研究成果報告書概要(欧文)」より
-
[Publications] Yamada Y,Kato K,Sukegawa K,Tomatsu S,Fukuda S,Emura S,Kojima S,Matsuyama T,Sly WS,Kondo N,Orii T: "Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation" Bone Marrow Transpl.(in press).
Description
「研究成果報告書概要(欧文)」より
