World of Unstable Mutations The book "Triplet Repeat Diseases of
the Nervous System" overviews the lat est data on several disorders
associated with unstable mutations. This field of re search is
progressing extremely fast. The number of polymorphic mutations and
diseases caused by these mutations is increasing almost every
month. There is a strong interest to molecular bases of triplet
repeat disorders. This is explained by growing necessity to develop
molecular approaches for cure of these diseases. There fore, the
authors of this book describe unstable mutations with the emphasis
on molecular pathology. Broad discussion is presented on how
polymorphic expan sions cause cell dysfunction. o The first chapter
of the book focuses on the molecular pathological pro cesses that
originate "unstable" mutations. The authors review several avail
able models by which normal "stable" region of DNA become
pathogenic and discuss possible mechanisms causing DNA instability.
o The other chapters of the book describe inherited diseases
associated with different types of unstable mutations. Based on the
location of mutation in the disease gene, polymorphic expansions of
the nervous system can be divided into two major groups. First
group includes disorders with unstable expansions within the open
reading frame of the gene such as Spinocer ebellar Ataxias caused
by polyglutamine expansions. The second group in cludes diseases
caused by expansions situated within the untranslated re gions of
the gene."
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