Asunto(s)
Carbidopa/uso terapéutico , Dopamina/orina , Levodopa/uso terapéutico , Enfermedad de Parkinson Secundaria/tratamiento farmacológico , Neoplasias de las Glándulas Suprarrenales/cirugía , Adrenalectomía/efectos adversos , Anciano , Carbidopa/farmacocinética , Dopamina/metabolismo , Combinación de Medicamentos , Monitoreo de Drogas , Humanos , Neoplasias Intestinales/metabolismo , Neoplasias Intestinales/secundario , Levodopa/farmacocinética , Masculino , Enfermedad de Parkinson Secundaria/etiología , Enfermedad de Parkinson Secundaria/orina , Feocromocitoma/metabolismo , Feocromocitoma/secundario , Feocromocitoma/cirugíaRESUMEN
Presence of ectopic lipid droplets (LDs) in cardiac muscle is associated to lipotoxicity and tissue dysfunction. However, presence of LDs in heart is also observed in physiological conditions, such as when cellular energy needs and energy production from mitochondria fatty acid ß-oxidation are high (fasting). This suggests that development of tissue lipotoxicity and dysfunction is not simply due to the presence of LDs in cardiac muscle but due at least in part to alterations in LD function. To examine the function of cardiac LDs, we obtained transgenic mice with heart-specific perilipin 5 (Plin5) overexpression (MHC-Plin5), a member of the perilipin protein family. Hearts from MHC-Plin5 mice expressed at least 4-fold higher levels of plin5 and exhibited a 3.5-fold increase in triglyceride content versus nontransgenic littermates. Chronic cardiac excess of LDs was found to result in mild heart dysfunction with decreased expression of peroxisome proliferator-activated receptor (PPAR)α target genes, decreased mitochondria function, and left ventricular concentric hypertrophia. Lack of more severe heart function complications may have been prevented by a strong increased expression of oxidative-induced genes via NF-E2-related factor 2 antioxidative pathway. Perilipin 5 regulates the formation and stabilization of cardiac LDs, and it promotes cardiac steatosis without major heart function impairment.
Asunto(s)
Cardiomiopatías/metabolismo , Miocardio/metabolismo , Miocitos Cardíacos/metabolismo , Proteínas/metabolismo , Animales , Western Blotting , Cardiomiopatías/genética , Línea Celular , Cricetinae , ADN Mitocondrial/genética , Ratones , Ratones Transgénicos , Microscopía Electrónica de Transmisión , Datos de Secuencia Molecular , Perilipina-5 , Proteínas/genética , Especies Reactivas de Oxígeno/metabolismo , Triglicéridos/metabolismoRESUMEN
The paper presents a clinical case of a 5 years old child with bilateral optic atrophy and the specific diagnosis and treatment problems of this case. The image investigations have a major part in establishing the positive diagnosis: computerized tomography, magnetic resonance imaging and the elective treatment belongs to the field of neurosurgery.