Breaks in coordination: DNA repair in inherited ataxia.
Genetic defects in DNA repair are increasingly recognized as being able to cause degenerative ataxia syndromes. It remains a mystery, however, why disruption of a process fundamental to proliferating cells can be selectively toxic to postmitotic neurons. Recent studies now reveal that an ataxia gene, tyrosyl phosphodiesterase 1 (TDP1), repairs single-stranded DNA breaks in nondividing cells. Here we review the implications of this and other findings for a growing list of hereditary ataxias.
Paulson
Henry L
HL
Department of Neurology and Carver College of Medicine, University of Iowa, Iowa City, Iowa 52245, USA. henry-paulson@uiowa.edu
Miller
Victor M
VM
D000818:Animals; D004260:DNA Repair / Q000502:physiology*; D004277:DNA, Single-Stranded / Q000502:physiology; D006801:Humans; D010727:Phosphoric Diester Hydrolases / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology
D004277:DNA, Single-Stranded; D010727:Phosphoric Diester Hydrolases; C498508:TDP1 protein, human; C122147:tyrosyl-DNA phosphodiesterase