Progress of research on protein composition and gene therapy of Fanconi anaemia - review.
- Author:
Zai-Yi LI
1
;
Yi-Feng ZOU
;
Yu-Bin DENG
Author Information
1. Department of Pathological Physiology, Sun Yat-Sen University, Guangzhou 510089, China.
- Publication Type:Journal Article
- MeSH:
Cell Cycle Proteins;
DNA-Binding Proteins;
Fanconi Anemia;
genetics;
metabolism;
therapy;
Fanconi Anemia Complementation Group C Protein;
Fanconi Anemia Complementation Group D2 Protein;
Fanconi Anemia Complementation Group Proteins;
Genetic Therapy;
Hematopoietic Stem Cell Transplantation;
Humans;
Mutation;
Nuclear Proteins;
genetics;
Proteins;
analysis;
genetics
- From:
Journal of Experimental Hematology
2004;12(2):231-235
- CountryChina
- Language:Chinese
-
Abstract:
Fanconi anaemia (FA) is an autosomal recessive inherited disorder caused by defects in hematopoietic stem cells. The clinical manifestations of FA are diverse and complicated. FA cells display high hypersensitivity to agents which produce interstrand DNA cross-links such as mitomycin C (MMC) or diepoxybutane (DEB). At least eight complementation groups with defects in eight genes (FANCA, FANCB, FANCC, FANCD(1), FANCD(2), FANCE, FANCF and FANCG) have been identified by gene analysis. Six genes (corresponding to subtypes A, C, D(2), E, F and G) have been coloned, and the encoded FA proteins interact in a common cellular pathway - "FA Pathway", through which modulate DNA repair. The progress of research on FA molecular mechanism provides gene therapy of FA with theory basis. FA cells transduced with the use of retrovirus carring the normal FA gene cDNA manifestate phenotypic correction of hypersensitivity to DNA cross-linking agents, such as MMC. In this review the clinical manifestations and gene composition of FA, and the functions of encoded FA proteins were summarized. The hematopoietic stem cell transplantation and gene therapy for FA patients were discussed.
