Revertant mosaicism in skin: natural gene therapy

被引:81
作者
Lai-Cheong, Joey E. [1 ]
McGrath, John A. [1 ]
Uitto, Jouni [2 ,3 ]
机构
[1] Kings Coll London, Div Genet & Mol Med, St Johns Inst Dermatol, London SE1 9RT, England
[2] Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[3] Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA
基金
美国国家卫生研究院;
关键词
WISKOTT-ALDRICH-SYNDROME; JUNCTIONAL EPIDERMOLYSIS-BULLOSA; SEVERE COMBINED IMMUNODEFICIENCY; IN-VIVO REVERSION; ADENOSINE-DEAMINASE DEFICIENCY; SOMATIC MOSAICISM; 2ND-SITE MUTATION; T-LYMPHOCYTES; FANCONI-ANEMIA; OMENN-SYNDROME;
D O I
10.1016/j.molmed.2010.11.003
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event and that it could be clinically relevant to phenotypic expression and patient treatment. Indeed, revertant cell therapy represents a potential 'natural gene therapy' because in vivo reversion obviates the need for further genetic correction. Revertant mosaicism has been observed in several inherited conditions, including epidermolysis bullosa, a heterogeneous group of blistering skin disorders. These diseases provide a useful model for studying revertant mosaicism because of the visual and accessible nature of skin. This overview highlights the latest developments in revertant mosaicism and the translational implications germane to heritable skin disorders.
引用
收藏
页码:140 / 148
页数:9
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