RESUMEN
Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients' quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of "metabolic memory" in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.
Asunto(s)
Neuropatías Diabéticas/genética , Epigénesis Genética , Epigenómica , Animales , Neuropatías Diabéticas/patología , Neuropatías Diabéticas/fisiopatología , Neuropatías Diabéticas/terapia , Predisposición Genética a la Enfermedad , Humanos , Inflamación/patología , Sistema Nervioso Periférico/patología , Sistema Nervioso Periférico/fisiopatologíaAsunto(s)
Isquemia Encefálica/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Isquemia Encefálica/fisiopatología , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/farmacología , Arteriosclerosis Intracraneal/fisiopatología , Arteriosclerosis Intracraneal/prevención & controlRESUMEN
This paper presents a case of a sixteen-year-old female patient with agenesis of corpus callosum which was accidentally discovered during etiological investigation of the consciousness disorder. Agenesis of corpus callosum, a rare congenital defect, might be associated with macrocephalia and various degrees of mental impairment, optic defects, and seizures. Apart from patients with these pathologic states, there are individuals with agenesis of corpus callosum, but without any clinical disturbances.