Oxidized cfDNA up-regulates NRF2 and PPARG2 and reduces ROS production in MSCs. These effects should be taken into account when considering therapeutic applications of stem cells.
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.
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.
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.
We studied the concentration of carnitine and its fractions in peripheral blood in 22 premature infants with fan-associated pneumonia and in 20 conditionally healthy premature infants by tandem mass spectrometry. The birth body weight of children was 2,086.32 ± 117.13 and 2,140.9 ± 74.4 g, gestational age was 33.7 ± 0.41 and 34.16 ± 0.51 weeks, respectively. The concentration of total carnitine was at the lower limit or decreased in 10 (45%) children in the acute period of the disease. 4 newborns with fan-associated pneumonia demonstrated persistent carnitine deficiency: the content of free carnitine was very low: 7.47 – 8, 37 μmol/l (7.97 ± 0.197 μmol/l), the concentration of total carnitine was also reduced (21.55 – 22.01 μmol/l, 21.7 ± 0.366 μmol/l). The fractions of acylcarnitines varied widely throughout the disease. One child had high rates of C18OH (0.282 μmol/l; norm 0–0.110 μmol/l) and C18:1OH (0.282 μmol/l; norm 0–0.180 μmol/l) during the entire neonatal period. It could be associated with mitochondrial trifunctional protein deficiency. The study of total carnitine and its fractions in premature infants with fan-associated pneumonia allowed us to identify violations of its metabolism, both secondary and hereditary at early stage.
Болезнь Краббе (БКр) - редкое наследственное аутосомно-рецессивное заболевание, входящее в группу лизосомных болезней накопления. Заболевание обусловлено мутациями в гене GALC, приводящими к дефициту фермента галактозилцерамидазы. Частота БКр оценивается как 1:100 000 живых новорожденных, хотя в некоторых странах регистрируется более высокая частота заболевания. Точная частота БКр в Российской Федерации и в ее регионах неизвестна. Мажорной мутацией, приводящей к развитию БКр, является крупная делеция затрагивающая 11-17 экзоны гена GALC c.1161+6532_polyA+9kbdel (IVS10del30kb). Доля этой мутации в европейской популяции оценивается примерно в 50% от всех мутаций. Для изучения спектра и частот мутаций гена GALC на территории РФ были обследованы пациенты из разных регионов. Частая делеция составила 54% от общего числа выявленных мутаций, что сопоставимо с данными по европейской популяции. Однако в Чеченской Республике данная мутация встречалась гораздо чаще, чем в других регионах. Среди 950 исследованных образцов было выявлено 7 гетерозиготных носителей частой мутации. Учитывая вклад других мутаций, расчётная частота БКр в республике составила 1:51237, что превышает таковую в европейской популяции. Дополнительный анализ всех найденных мутаций гена GALC позволил выявить вариант c.578T>C, p.Ile193Thr, аллельная частота которого составила 8%. Данная замена впервые была описана у пациентов из нашей выборки и встречается только при поздней инфантильной форме заболевания у русских пациентов. Krabbe’s disease (KD) is a rare inherited autosomal recessive lysosomal storage disease. KD is caused by mutations in the GALC gene leading to deficiency of galactosylceramidase. KD oссurs in 1 per 100 000 newborns, although some countries have a higher incidence rate. The exact KD incidence in Russia is unknown. A major mutation leading to the KD development is a large deletion affecting exons 11-17 of the GALC gene с.1161+6532_polyA+9kbdel (IVS10del30kb). This mutation occurs in 50% of KD cases in the European population. Patients from different regions were studied to analyze the mutation spectrum and the incidence in the Russian population. The incidence rate of the large deletion in our study equals 54%, that is comparable with European population. However, in the Chechen Republic this mutation is much more common than in other regions. 950 samples were studied, 7 heterozygous carriers of frequent mutation were identified. Thus, the estimated KD incidence rate is 1:51237 considering other mutations, and it is higher than that in the European population. Additional analysis of all detected GALC mutations revealed a genetic variant c.578T>C, p.Ile193Thr with allelic frequency measured up 8%. This substitution was described in our selection for the first time and presented only in Russian patients with late infantile form of the disease.
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