ABSTRACT
OBJECTIVE@#To explore depletion of human mitochondrial DNA 4977-bp and its relation with aging.@*METHODS@#Total DNA (nuclear and mtDNA) was extracted from 100mg muscle tissue. UV light illumination of ethidium bromide-stained PCR products was used to study the depletion of mtDNA (wild-type or mutant).@*RESULTS@#The proportions of mtDNA depletion in human skeletal muscle could be determined. The frequency of mtDNA 4977-bp depletion in different age groups (0-9, 10-19, 20-29, 30-39, 40-49, 50-59, 60-69, 70-79, 80-89, 90-99) was: 0%, 0%, 0.003%, 0.011%, 0.015%, 0.033%, 0.038%, 0.062%, 0.069%, and 0.091%, respectively.@*CONCLUSION@#Our findings suggest that the frequency of the mtDNA4977 depletion in human skeletal muscle increases with age. It might be useful for human age estimation.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Age Factors , Aging/genetics , DNA Primers , DNA, Mitochondrial/metabolism , Mitochondria, Muscle/genetics , Muscle, Skeletal/metabolism , Polymerase Chain Reaction , Sequence DeletionABSTRACT
El estudio de las anormalidades del DNA mitocondrial y de su relaicón con trastornos a nivel de la fosforilación oxidativa y cadena de transporte de electrones ha permitido la descripción de una gama de síndromes denominados enfermedades o citopatías mitocondriales. El objetivo del presente trabajo es hacer una revisión de los aspectos clínicos más relevantes de este diverso grupo de enfermedades, y proponer un algoritmo diagnóstico, con la finalidad de que los médicos que atienden a estos pacientes puedan considerarlas dentro del espectro de diagnósticos diferenciales en los casos pertinentes