Human aging and somatic point mutations in mtDNA: a comparative study of generational differences (grandparents and grandchildren)

The accumulation of somatic mutations in mtDNA is correlated with aging. In this work, we sought to identify somatic mutations in the HVS-1 region (D-loop) of mtDNA that might be associated with aging. For this, we compared 31 grandmothers (mean age: 63 ± 2.3 years) and their 62 grandchildren (mean age: 15 ± 4.1 years), the offspring of their daughters. Direct DNA sequencing showed that mutations absent in the grandchildren were detected in a presumably homoplasmic state in three grandmothers and in a heteroplasmic state in an additional 13 grandmothers; no mutations were detected in the remaining 15 grandmothers. However, cloning followed by DNA sequencing in 12 grandmothers confirmed homoplasia in only one of the three mutations previously considered to be homoplasmic and did not confirm heteroplasmy in three out of nine grandmothers found to be heteroplasmic by direct sequencing. Thus, of 12 grandmothers in whom mtDNA was analyzed by cloning, eight were heteroplasmic for mutations not detected in their grandchildren. In this study, the use of genetically related subjects allowed us to demonstrate the occurrence of age-related (> 60 years old) mutations (homoplasia and heteroplasmy). It is possible that both of these situations (homoplasia and heteroplasmy) were a long-term consequence of mitochondrial oxidative phosphorylation that can lead to the accumulation of mtDNA mutations throughout life.

Oral and maxillofacial trauma in brazilian children and adolescents

Crianças e adolescentes freqüentemente são vítimas de trauma nas regiões oral e maxilofacial. O objetivo deste estudo foi determinar as características do trauma na região oral e maxilofacial que resultaram em registros policiais, em crianças e adolescentes na faixa etária de 0 a 16 anos, por um período de 5 anos. Dos 28.200 laudos avaliados, 463 foram incluídos na pesquisa. A taxa homem:mulher observada foi de 1,6:1 e a faixa etária de maior ocorrência foi a de 15-16 anos (44,40%). A maioria dos casos de trauma foi decorrente de agressão física (64,50%) e resultou em lesão de tecido mole (80,36%). Entre os tipos mais freqüentes, destacam-se as escoriações (28,64%) e quanto à localização, a região maxilar (22,63%). O tipo de lesão dental mais comum foi trauma dental (54,76%), e as fraturas ósseas predominaram nas regiões nasal (36,7%). Os resultados encontrados podem auxiliar no planejamento e execução de medidas preventivas e direcionar medidas curativas dirigidas a este grupo populacional.