RESUMEN
The cerebrospinal fluid of patients with Parkinson's disease was shown to contain extracellular DNA. Extracellular DNA concentration in the cerebrospinal fluid was 3.3-fold lower than in blood plasma from these patients. HPLC-mass spectrometry analysis showed that the pool of extracellular DNA from the liquor is characterized by a lower content of deoxythymidine, but greater amounts of deoxycytidine and deoxyguanosine than the pool of extracellular DNA from the plasma. The level of deoxyguanosine was 2 times lower than that of deoxycytidine (as differentiated from plasma extracellular DNA with similar content of these substances). Our findings indicate that extracellular DNA from the cerebrospinal fluid contains considerable amounts of modified deoxyguanosine. These data attest to significant differences in the quantitative and qualitative characteristics of extracellular DNA from the blood and cerebrospinal fluid of patients. Specific features of extracellular DNA from the cerebrospinal fluid of patients suggest its involvement in the pathogenesis of Parkinson's disease.
Asunto(s)
ADN/sangre , ADN/líquido cefalorraquídeo , ADN/química , Enfermedad de Parkinson/genética , Cromatografía Líquida de Alta Presión , Desoxirribonucleósidos/análisis , Humanos , Espectrometría de Masas , Estadísticas no Paramétricas , Espectrometría de Masas en TándemRESUMEN
Glutaric aciduria type I is a rare autosomic recessive neurometabolic disease, which develops in the first year of life and is characterized by progressive extrapyramidal disorders as a result of the basal ganglia damage. We describe first cases of this disease in Russian population. The clinical observations are compared to the literature data. The disease usually develops after infections and features by seizures, vomiting, metabolic acidosis and deprivation of consciousness up to coma. These crises lead to the development of necroses of the basal ganglia that results in dystonias, dyskinesias and choreoatethosis. The secondary complications of the disease are difficulties with feeding, speech delay, chronic aspiration syndrome and severe delay of movement development. Diagnostics of the disease is based on urine and blood tests using methods of tandem mass spectrometry and gas chromatography. Treatment is based on dietary lysine or protein restriction and supplementation with carnitine. The data on the treatment of this disease are presented.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Glutaril-CoA Deshidrogenasa , Ganglios Basales , Encefalopatías Metabólicas , Carnitina/uso terapéutico , Humanos , LactanteRESUMEN
Studies of the protein composition of leukocytes revealed markers of general pathology: 2 protein parameters (53K/H2A>0.25; 43K/H2A<1.61) differed from normal in 1627 patients with various pathologies. We compared protein parameters of leukocytes with other markers of general pathology. By the sensitivity and spectrum of associated diseases, the detected protein parameters of leukocytes can serve as the gold standard in the diagnostics of general pathology. These protein markers can be used for screening of newborns requiring therapeutic and preventive treatment, employers exposed to occupational hazards, and people inhabiting ecologically unfavorable regions, and for prevention of therapeutic complications in patients.
Asunto(s)
Biomarcadores , Leucocitos/inmunología , Proteínas Sanguíneas/análisis , HumanosAsunto(s)
Apoptosis/genética , Genes p53 , Marcadores Genéticos , Pruebas Genéticas , Animales , Enfermedad de Bowen/genética , Caenorhabditis elegans/genética , Carcinoma de Células Escamosas/genética , Células Cultivadas , Cromosomas Humanos Par 17/genética , ADN/genética , Expresión Génica , Genes Supresores de Tumor , Homeostasis , Humanos , Inmunohistoquímica , Leucocitos/citología , Monitoreo Fisiológico , Mutación , Necrosis , Neoplasias/genética , Fenotipo , Células Tumorales Cultivadas/metabolismo , Proteína p53 Supresora de Tumor/genéticaRESUMEN
Comparative analysis of association with psoriasis before and after treatment of 53K/H2A and 43K/H2A leukocyte protein markers and parameters of leukocyte population (18 indexes) including concentration of peripheral blood lymphocyte subpopulations as markers of the immune status revealed advantages of the former method of patient monitoring for the evaluation of treatment efficacy. The method showed 100% sensitivity and correlation with the dynamics of clinical symptoms. A significant correlation of 53K/H2A parameter with blood content of CD3+, CD4+, CD8+, and CD72+ lymphocytes was established.
Asunto(s)
Genoma , Leucocitos/metabolismo , Psoriasis/genética , Psoriasis/inmunología , Adolescente , Adulto , Antígenos CD/biosíntesis , Antígenos de Diferenciación de Linfocitos B/biosíntesis , Complejo CD3/biosíntesis , Antígenos CD4/biosíntesis , Antígenos CD8/biosíntesis , Niño , Femenino , Humanos , Linfocitos/metabolismo , Masculino , Persona de Mediana Edad , Psoriasis/sangreRESUMEN
The content of 53K/H2A and 43K/H2A proteins in leukocytes of patients with psoriasis, newborns, and healthy donors was studied. In all patients one or both parameters differed from normal. Mean values and distribution of 53K/H2A in healthy siblings of psoriatic proband significantly differed from those in newborns and donors. It was concluded that 53K/H2A is a marker of pathological changes in the genome responsible for predisposition to psoriasis. This marker can be revealed in peripheral blood leukocytes before skin manifestations of the disease.
