Asunto(s)
Dilatación Patológica/diagnóstico por imagen , Duramadre/patología , Síndrome de Ehlers-Danlos/diagnóstico , Mucosa Bucal/patología , Tibia/patología , Adolescente , Atrofia/diagnóstico , Duramadre/anomalías , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/patología , Femenino , Gingivitis/diagnóstico , Gingivitis/etiología , Heterocigoto , Humanos , Leucoencefalopatías/complicaciones , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/genética , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Mutación Missense , Enfermedades Periodontales/genética , Enfermedades Periodontales/patología , Región Sacrococcígea/patología , Adulto JovenRESUMEN
The potential role of the mitochondrial genome has recently attracted interest because of its high mutation frequency in tumors. Different aspects of mtDNA make it relevant for cancer's biology, such as it encodes a limited but essential number of genes for OXPHOS biogenesis, it is particularly susceptible to mutations, and its copy number can vary. Moreover, most ROS in mitochondria are produced by the electron transport chain. These characteristics place the mtDNA in the center of multiple signaling pathways, known as mitochondrial retrograde signaling, which modifies numerous key processes in cancer. Cybrid studies support that mtDNA mutations are relevant and exert their effect through a modification of OXPHOS function and ROS production. However, there is still much controversy regarding the clinical relevance of mtDNA mutations. New studies should focus more on OXPHOS dysfunction associated with a specific mutational signature rather than the presence of mutations in the mtDNA.
Asunto(s)
ADN Mitocondrial/genética , Mitocondrias/genética , Mutación/genética , Neoplasias/genética , Neoplasias/patología , HumanosRESUMEN
Data is progressively and robustly accumulating regarding the biological basis of autism. Autism spectrum disorders (ASD) are currently considered a group of neurodevelopmental disorders with onset very early in life and a complex, heterogeneous, multifactorial aetiology. A comprehensive search of the last five years of the Medline database was conducted in order to summarize recent evidence on the neurobiological bases of autism. The main findings on genetic influence, neuropathology, neurostructure and brain networks are summarized. In addition, findings from peripheral samples of subjects with autism and animal models, which show immune, oxidative, mitochondrial dysregulations, are reported. Then, other biomarkers from very different systems associated with autism are reported. Finally, an attempt is made to try and integrate the available evidence, which points to a oligogenetic, multifactorial aetiology that converges in an aberrant micro-organization of the cortex, with abnormal functioning of the synapses and abnormalities in very general physiological pathways (such as inflammatory, immune and redox systems).
Asunto(s)
Trastornos Generalizados del Desarrollo Infantil/etiología , Animales , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Trastornos Generalizados del Desarrollo Infantil/genética , Variación Genética , Humanos , Mutación , Prevalencia , Prevención Secundaria , GemelosRESUMEN
The potential role of the mitochondrial genome has recently attracted interest because of its high mutation frequency in tumors. Different aspects of mtDNA make it relevant for cancers biology, such as it encodes a limited but essential number of genes for OXPHOS biogenesis, it is particularly susceptible to mutations, and its copy number can vary. Moreover, most ROS in mitochondria are produced by the electron transport chain. These characteristics place the mtDNA in the center of multiple signaling pathways, known as mitochondrial retrograde signaling, which modifies numerous key processes in cancer. Cybrid studies support that mtDNA mutations are relevant and exert their effect through a modification of OXPHOS function and ROS production. However, there is still much controversy regarding the clinical relevance of mtDNA mutations. New studies should focus more on OXPHOS dysfunction associated with a specific mutational signature rather than the presence of mutations in the mtDNA (AU)
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