Abstract
Defects in cellular DNA repair processes have been linked to genome instability, heritable cancers, and premature aging syndromes. Yet defects in some repair processes manifest themselves primarily in neuronal tissues. This review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1). A picture is emerging to suggest that brain cells, due to their nonproliferative nature, may be particularly prone to the progressive accumulation of unrepaired DNA lesions.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Animals
-
Apraxias / genetics
-
Apraxias / metabolism
-
Ataxia Telangiectasia / genetics
-
Ataxia Telangiectasia / metabolism
-
Axons / metabolism
-
DNA Breaks, Single-Stranded*
-
DNA Repair Enzymes / metabolism
-
DNA Repair*
-
DNA-Binding Proteins / chemistry
-
DNA-Binding Proteins / genetics
-
DNA-Binding Proteins / metabolism*
-
Genetic Predisposition to Disease
-
Genomic Instability*
-
Humans
-
Models, Molecular
-
Mutation
-
Nerve Degeneration / genetics
-
Nerve Degeneration / metabolism
-
Neurodegenerative Diseases / genetics*
-
Neurodegenerative Diseases / metabolism
-
Neurodegenerative Diseases / pathology
-
Neurons / metabolism*
-
Neurons / pathology
-
Nuclear Proteins / chemistry
-
Nuclear Proteins / genetics
-
Nuclear Proteins / metabolism*
-
Oculomotor Nerve Diseases / genetics
-
Oculomotor Nerve Diseases / metabolism
-
Phosphoric Diester Hydrolases / chemistry
-
Phosphoric Diester Hydrolases / genetics
-
Phosphoric Diester Hydrolases / metabolism*
-
Protein Conformation
-
Protein Structure, Tertiary
-
Spinocerebellar Ataxias / genetics
-
Spinocerebellar Ataxias / metabolism
-
Zinc Fingers
Substances
-
APTX protein, human
-
DNA-Binding Proteins
-
Nuclear Proteins
-
Phosphoric Diester Hydrolases
-
TDP1 protein, human
-
DNA Repair Enzymes