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J. Cieslak K. A. Majewska A. Tomaszewska B. Skowronska P. Fichna M. Switonski 《Molecular biology reports》2013,40(12):6893-6898
The predisposing role to human obesity of the MC3R gene polymorphism is controversial. In this report we present the first study focused on the search for the MC3R polymorphism in the Polish population. Altogether 257 obese children and adolescents (RBMI>120) and 94 adults, who were never obese or overweight (BMI<25), were studied. For all subjects the entire coding sequence was analyzed by direct DNA sequencing. One common polymorphism (81Val>Ile) and two rare mutations (257Arg>Ser and 335Ile>Ser) were identified. The common polymorphism was widely distributed in the obese and control cohorts, while the mutations were identified in four obese subjects only. In case of the 335Ile>Ser substitution a three-generation family, consisting of 20 members, was also analyzed. It was found that all carriers of the 335Ser mutation were obese, but among non-carriers obese subjects also were found. Our study suggests that the predisposing effect to obesity of the 81Ile polymorphic variant is rather unlikely. With regard to the studied rare mutations we suggest that the 335Ser allele may have a small predisposing effect. 相似文献
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Joanna Suliburska Paweł Bogdański Monika Szulińska 《Biological trace element research》2013,151(2):263-268
The aim of this study was to assess the metabolic and physiological changes in rats fed a diet high in fat, fructose, and salt, and with excess iron level. Mineral status was also estimated. Wistar rats were assigned to groups fed either a standard control diet (C) or a diet high in fat, fructose, and salt. The noncontrol diets contained either normal (M) or high level (MFe) of iron. After 6 weeks, the length and weight of the rats were measured, and the animals were euthanized. The kidneys and gonads were collected, and blood samples were taken. Serum levels of insulin, nitric oxide, and iron were measured. The iron, zinc, copper, and calcium concentrations of tissues were determined. It was found that the M diet led to a significant increase in the relative kidney mass of the rats compared with the control group. Among the rats fed the M diet, markedly higher serum level of iron and lower levels of zinc and copper were observed in tissues, while significantly higher calcium levels were found in the gonads. The MFe diet resulted in decreased obesity index, insulin level, and nitric oxide serum concentration in the rats, when compared with both the M and C diets. The high iron level in the modified diet increased the relative mass of the gonads. The excess iron level in the diet disturbed the zinc, copper, and calcium status of tissues. The decrease in insulin and nitric oxide in rats fed the diet high in iron, fat, fructose, and salt was associated with disorders of zinc, copper, and calcium status, as well as with an increase in the relative mass of the gonads. 相似文献
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S. S. Weinreich Bogda Hoebe-Hewryk A. R. van der Horst Claire J. P. Boog Pavol Ivanyi 《Immunogenetics》1997,46(1):35-40
Ankylosing enthesopathy (ANKENT) is a spontaneous mouse joint disease with strikingly similar pathology to human HLA-B27-associated
enthesopathies such as ankylosing spondylitis. In C57Bl/10 mice, transgenic HLA-B*2702 as well as H2 genes have been shown to be relative risk factors for ANKENT. To investigate the role of major histocompatibility
complex (MHC) class I expression in disease pathogenesis, ANKENT occurrence was compared among β2-microglobulin (β2m) knockout littermates with or without transgenes for HLA-B*2702 and human β2m. In the knockout phenotype lacking β2m, ANKENT occurrence is significantly reduced (P = 0.016). In the absence of β2m, B*2702 is not detected on the cell membrane, nor does it increase the risk for ANKENT. This means that the previous finding
that HLA-B*2702 increases susceptibility to ANKENT in C57Bl/10 mice cannot be ascribed to a transgene insertion effect. Rather, in order
to increase disease susceptibility, B*2702 must be coexpressed with mouse β2m (mo-β2m). In contrast, when HLA-B*2702 is expressed with β2m of human origin, disease susceptibility is not affected. Thus, both H2b-derived class I heterodimers and HLA-B*2702/mo-β2m heterodimers contribute to ANKENT susceptibility. 相似文献
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Joanna Suliburska Paweł Bogdański Danuta Pupek-Musialik Zbigniew Krejpcio 《Biological trace element research》2011,139(2):137-150
Inadequate minerals intake, as well as disruption of some metabolic processes in which microelements are cofactors, are suggested
to lead to the development of hypertension. The role of minerals in the pathogenesis of hypertension still remains to be explained.
In the present study, we sought to determine associations between serum and hair mineral concentrations and serum lipids and
glucose levels. Forty obese hypertensive subjects with insulin resistance and 40 healthy volunteers were recruited in the
study. Blood pressure, BMI, and insulin resistance were recorded in all subjects. Levels of lipids, glucose, sodium and potassium,
iron, copper, zinc, magnesium, and calcium were assessed in serum. Iron, copper, zinc, magnesium, and calcium were assessed
in hair. Dietary intake of the analyzed minerals was estimated. We found distinctly higher concentrations of serum iron and
serum and hair calcium as well as markedly lower levels of hair zinc in the hypertensive subjects. The study group manifested
also significantly lower daily intake of calcium, magnesium, and iron. We observed a relationship between the concentrations
of iron, zinc, and copper in serum and hair and high and low range of cholesterol, triglycerides, and glucose serum levels
in the studied patients. Moreover, this study demonstrated significant correlation between serum and hair concentrations of
selected minerals and their dietary intake and levels of serum lipids and glucose and blood pressure in the study and the
control groups. The obtained results seem to indicate the association between lipid and glucose metabolism and iron, copper,
zinc, and calcium concentrations in blood and hair of hypertensive and obese patients with insulin resistance. 相似文献
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Ambroziak U Pachucki J Bednarczuk T Pogorzelski R Toutounchi S Bogdańska M Koperski L Bar-Andziak E 《Endokrynologia Polska》2011,62(5):466-470
Bacterial thyroiditis is a rare disease, and one of which the clinical symptoms and signs are frequently misleading. On the other hand, prompt diagnosis is crucial for successful treatment. We report the case of an 82 year-old man with diabetes mellitus type 2 and a history of steroid treatment who presented with severe odynophagia and dysphagia associated with fever, chills, sore throat and right ear pain. Based on the clinical picture, radiological studies, thyroid cytology, blood and thyroid aspirate culture, suppurative thyroiditis caused by Salmonella enteritidis was diagnosed. The patient was successfully treated with antibiotics and surgical drainage. 相似文献
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Bogdańska M Górnicka B Ziarkiewicz-Wróblewska B Koperski L Morton M Wasiutyński A 《Endokrynologia Polska》2006,57(4):314-319
INTRODUCTION: Estimation of malignancy in thyroid follicular neoplasms is a common diagnostic problem, thus revealing of differences in expression of some antigens in both benign and malignant lesions seems to be essential. The aim of this study is to evaluate the immunohistochemical expression of CD15, galectin-3 and HBME-1 in follicular adenomas and carcinomas. MATERIAL AND METHODS: Samples of 38 follicular adenomas (23 "classical", 5 with intracapsular invasion, 10 oncocytic) and 15 follicular carcinomas (9 "classic", 6 oncocytic) were stained immunohistochemically with anti-CD15, galectin-3 and HBME-1. RESULTS: In the whole group we found statistically significant differences in CD15 expression between follicular adenomas and carcinomas. "Classic" follicular carcinomas (without oncocytic tumors) showed stronger CD15 and HBME- 1 expression than "classic" adenomas. Adenomas with intracapsular invasion differed from "classic" adenomas only in HBME-1 expression. In oncocytic tumors the expression of examined antigens was similar. CONCLUSIONS: 1. In the group of nonoxyphilic tumors positive reaction with HBME-1 was more common in adenomas with intracapsular invasion and carcinomas, but positive reaction with anti-CD15--only in carcinomas. We suggest that reactivity with these antibodies could mark malignancy. 2. Oncocytic tumors had similar expression of CD15 and HBME-1 and galectin-3. 相似文献
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Nowacka-Woszuk J Cieslak J Skowronska B Majewska KA Stankiewicz W Fichna P Switonski M 《Journal of applied genetics》2011,52(3):319-323
Extensive studies of the MC4R gene polymorphism showed that, among numerous variants, there are mutations responsible for monogenic obesity, as well as
polymorphisms negatively correlated with the risk of obesity. In this report, we present the first studies of the whole coding
sequence of the MC4R gene in 243 Polish obese children and adolescents (the mean relative body mass index [RBMI] was 163.6). In addition, 101
non-obese adults were also analyzed. Direct sequencing facilitated the identification of six missense (K73R, V103I, T112M,
S127L, M215L, and I251L) and one silent (c.756 C > T) single-nucleotide polymorphisms (SNPs). Two non-synonymous polymorphisms
(K73R and M215L) appeared to be novel and one was found in obese patients (M215L, one patient) and one in non-obese adults
(K73R, one person). The overall frequency of non-synonymous variant carriers reached 4.1% and 6.9% in obese patients and non-obese
adults, respectively. Only one obesity-associated variant (127L) was found in two obese patients (0.82%) and in two non-obese
adults (1.98%). The obesity-protecting variants (103I and 251L) appeared to be the most common in both groups: 3.3% and 4.0%,
respectively. It was also observed that the RBMI in obese children and adolescents carrying the minor variants did not differ
significantly from the non-carriers; however, the expected trends for the associated and protecting variants were observed.
We conclude that the contribution of the MC4R gene variants to the pathogenesis of obesity in Polish children and adolescents is low. 相似文献