title: Mitochondrial microsatellite instability in colorectal carcinomas--frequency and association with nuclear microsatellite instability.
abstract: The D310 mononucleotide repeat in the D-loop region in mitochondrial DNA has been identified as a hotspot for alterations in primary tumours. We examined D310 alterations as well as repeats in the ND1 and ND5 genes, in 95 colorectal carcinomas and in 95 controls without known gastrointestinal malignancy. D310 alterations were found in 32 (34%) of the carcinomas, in contrast to two persons (2%) in the control group. Thus, when frequency is concerned, D310 seems to be a hotspot for alterations in colorectal cancer. No mutations were found in the ND1 and ND5 genes. D310 instability was not associated with nuclear microsatellite instability, indicating different mechanisms of occurrence.
authors.affiliation: Institute of Forensic Medicine, University of Oslo, The National Hospital, 0027 Oslo, Norway.
authors.forename: Guttorm
authors.initials: G
authors.lastname: Guleng
authors.forename: Tone
authors.initials: T
authors.lastname: Løvig
authors.forename: Gunn Iren
authors.initials: GI
authors.lastname: Meling
authors.forename: Solveig Norheim
authors.initials: SN
authors.lastname: Andersen
authors.forename: Torleiv Ole
authors.initials: TO
authors.lastname: Rognum
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002467:Cell Nucleus / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D042822:Genomic Instability; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial