No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia

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Abstract
The standard “Cambridge” reference mtDNA sequence2, 3 has a run of cytosine residues from nucleotide position (np) 16184 to 16193 interrupted by a thymidine residue at nucleotide position 16189. In approximately 12% of the UK population, there is a T→C substitution at np 16189.1 In most individuals this results a tract of 10 C residues (polyC tract). This sequence is unstable and is associated with length variation of the polyC tract, probably because of slippage during genome replication,4 generating larger and smaller polyC tracts within the same individual during life (heteroplasmy).4 However, occasional individuals have other polymorphisms between np 16184 and 16193, which appear to stabilise the tract and do not lead to the generation of length variants.4 We suggest a more accurate definition should be used when referring to the homopolymeric C tract that is present in the majority of individuals with the T16189C substitution. The term “mtDNA 16184-93 polyC tract” will hopefully prevent confusion in the future.

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