RESUMEN
Polymorphisms in the gene encoding adiponectin receptor 1 (AdipoR1) are associated with insulin resistance, fatty liver, increased risk for type 2 diabetes and cardiovascular disease. AdipoR1 is expressed in the central nervous system and in the olfactory mucosa of mice and humans. We therefore hypothesized that a common polymorphism in AdipoR1 might alter olfactory function. We investigated a group of 222 healthy subjects (male: n = 147, female: n = 75) for olfactory recognition, and genotyped them for the polymorphism rs6666089 in the human AdipoR1 gene. This polymorphism has been previously shown to be associated with insulin resistance. Olfactory recognition was tested using standardized sniffing sticks, and parameters of glucose metabolism and serum adiponectin levels were assessed. We found a significant olfactory impairment in carriers of the AdipoR1 polymorphism rs6666089 (olfactory recognition: GG: 89.4 ± 1.2%, GA: 86.9 ± 1.4%, AA: 77.2 ± 4.8%, additive model, P = 0.0004, adjusted for age). Adiponectin levels had no impact on olfactory recognition. Fasting plasma glucose, fasting plasma insulin, body mass index and HbA1c did not differ between the genotype groups. In conclusion, the presence of a genetic variation in AdipoR1 is associated with decreased olfactory recognition in healthy subjects. Adiponectin signalling may have an important role in olfactory function and regulation of appetite.
Asunto(s)
Glucemia/genética , Resistencia a la Insulina/genética , Percepción Olfatoria/genética , Receptores de Adiponectina/genética , Anciano , Anciano de 80 o más Años , Animales , Femenino , Variación Genética , Genotipo , Humanos , Masculino , Ratones , Persona de Mediana Edad , Polimorfismo de Nucleótido SimpleRESUMEN
Hyperechogenicity of the substantia nigra (SN) has been proposed to be a typical finding in Parkinson's disease (PD) and a marker of vulnerability to nigrostriatal dysfunction in healthy subjects. This large cross-sectional study including 1120 subjects older than 50 years without any signs of PD was performed to evaluate the association of SN hyperechogenicity and other proposed epidemiological risk factors for PD. Among all variables assessed only family history of PD and male gender proved to be significantly associated with SN hyperechogenicity, indicating a genetic predisposition for the ultrasound marker.
Asunto(s)
Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/genética , Sustancia Negra/diagnóstico por imagen , Sustancia Negra/patología , Sustancia Negra/fisiología , Anciano , Estudios Transversales , Ecoencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores SexualesRESUMEN
In parkinsonian syndromes dementia frequently occurs in the disease progress. The cholinergic system has been proposed as playing a key role in cognitive disturbances. Therefore the application of cholinesterase inhibitors (ChEI) is also hotly argued for dementia associated with parkinsonian syndromes. This review focuses on the specific symptoms of dementia in Parkinson's disease (PDD), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). The effect of cholinergic treatment on cognition and behaviour is reported and critically discussed. There is evidence that medication with some ChEIs reduces cognitive disturbances and to a lesser extent improves activities of daily living in PDD. Behavioural symptoms also seem to be positively influenced by treatment with ChEIs in both PDD and DLB. The effect of treatment with cholinesterase inhibitors in PSP and CBD warrants more carefully designed studies including sufficient numbers of patients.