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Genetika ; 52(4): 497-502, 2016 Apr.
Artículo en Ruso | MEDLINE | ID: mdl-27529986

RESUMEN

For identification of somatic mitochondrial DNA (mtDNA) mutations, the mtDNA major noncoding region (D-loop) sequence in blood samples and carotid atherosclerosis plaques from patients with atherosclerosis was analyzed. Five point heteroplasmic positions were observed in 4 of 23 individuals (17%). Only in two cases could heteroplasmy have resulted from somatic mutation, whereas three heteroplasmic positions were found in both vascular tissue and blood. In addition, length heteroplasmy in a polycytosine stretches was registered at nucleotide positions 303-315 in 16 individuals, and also in the 16184-16193 region--in four patients. The results suggest that somatic mtDNA mutations can occur during atherosclerosis, but some heteroplasmic mutations may appear in all tissues, possibly being inherited.


Asunto(s)
Aterosclerosis/genética , Arterias Carótidas/patología , ADN Mitocondrial/genética , Placa Aterosclerótica/genética , Anciano , ADN Mitocondrial/sangre , Humanos , Masculino , Persona de Mediana Edad , Mitocondrias/genética , Placa Aterosclerótica/sangre , Placa Aterosclerótica/patología , Mutación Puntual/genética , Polimorfismo de Nucleótido Simple
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