Premium
Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues
Author(s) -
Timchenko L. T.,
Caskey C. Thomas
Publication year - 1996
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.10.14.9002550
Subject(s) - myotonic dystrophy , trinucleotide repeat expansion , fragile x syndrome , spinal and bulbar muscular atrophy , spinocerebellar ataxia , disease , ataxia , atrophy , medicine , movement disorders , genetics , biology , pathology , psychiatry , gene , prostate cancer , cancer , allele , androgen receptor
Several human disorders are now known to be caused by expansion of unstable tri‐nucleotide repeat sequences, including fragile X syndrome (FRAX), myotonic dystrophy (DM), spinal and bulbar muscular atrophy (SBMA, also known as Kennedy disease), Huntington disease (HD), denta‐ torubral‐pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 1 (SCA1), Machado‐Joseph disease (MJD), and Friedreich ataxia. As these diseases are studied in more detail, important differences have emerged in the nature of the unstable repeats and the mechanism by which the repeat expansions cause disease symptoms. There are already animal models of some of these disorders, and these are important resources for studying pathology and therapeutic strategies. Diagnostic procedures for these disorders are only beginning to be standardized, and effective therapy will have to wait for further information on disease mechanisms. Much has been learned since discovery of the fragile X syndrome gene in 1991, but much remains to be done.—Timchenko, L. T., Caskey, C. T. Trinucleotide repeat disorders in humans: Discussions of mechanisms and medical issues. FASEB J. 10, 1589‐1597(1996)