The establishment of the Marfan syndrome biobank in Hungary

2012 ◽  
Vol 153 (8) ◽  
pp. 296-302 ◽  
Author(s):  
Annamária Ágota ◽  
Bence Ágg ◽  
Kálmán Benke ◽  
József Gábor Joó ◽  
Zoltán Langmár ◽  
...  
Keyword(s):  
Gene Expression ◽  
Physical Activity ◽  
Marfan Syndrome ◽  
Psychological Factors ◽  
Genomic Dna ◽  
Genetic Disorder ◽  
Clinical Parameters ◽  
Systemic Manifestations ◽  
Systemic Symptoms

Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000–3000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing. Aims: Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome. Methods: In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients’ cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology. Results: For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors. Conclusions: The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome. Orv. Hetil., 2012, 153, 296–302.

scholarly journals Increased Gene Expression of RUNX2 and SOX9 in Mesenchymal Circulating Progenitors Is Associated with Autophagy during Physical Activity

2019 ◽  
Vol 2019 ◽  
pp. 1-14 ◽  
Author(s):  
L. Dalle Carbonare ◽  
M. Mottes ◽  
S. Cheri ◽  
M. Deiana ◽  
F. Zamboni ◽  
...  
Keyword(s):  
Gene Expression ◽  
Physical Activity ◽  
Physical Exercise ◽  
Cellular Functions ◽  
Enhanced Expression ◽  
Chondrocytic Differentiation ◽  
Marathon Performance ◽  
Array Analyses

Lack of physical exercise is considered an important risk factor for chronic diseases. On the contrary, physical exercise reduces the morbidity rates of obesity, diabetes, bone disease, and hypertension. In order to gain novel molecular and cellular clues, we analyzed the effects of physical exercise on differentiation of mesenchymal circulating progenitor cells (M-CPCs) obtained from runners. We also investigated autophagy and telomerase-related gene expression to evaluate the involvement of specific cellular functions in the differentiation process. We performed cellular and molecular analyses in M-CPCs, obtained by a depletion method, of 22 subjects before (PRE RUN) and after (POST RUN) a half marathon performance. In order to prove our findings, we performed also in vitro analyses by testing the effects of runners’ sera on a human bone marrow-derived mesenchymal stem (hBM-MSC) cell line. PCR array analyses of PRE RUN versus POST RUN M-CPC total RNAs put in evidence several genes which appeared to be modulated by physical activity. Our results showed that physical exercise promotes differentiation. Osteogenesis-related genes as RUNX2, MSX1, and SPP1 appeared to be upregulated after the run; data showed also increased levels of BMP2 and BMP6 expressions. SOX9, COL2A1, and COMP gene enhanced expression suggested the induction of chondrocytic differentiation as well. The expression of telomerase-associated genes and of two autophagy-related genes, ATG3 and ULK1, was also affected and correlated positively with MSC differentiation. These data highlight an attractive cellular scenario, outlining the role of autophagic response to physical exercise and suggesting new insights into the benefits of physical exercise in counteracting chronic degenerative conditions.

scholarly journals Synaptosomal Protein of 25 kDa (Snap25) Polymorphisms Associated with Glycemic Parameters in Type 2 Diabetes Patients

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Nasser M. Al-Daghri ◽  
Andrea S. Costa ◽  
Majed S. Alokail ◽  
Milena Zanzottera ◽  
Amal M. Alenad ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type 2 Diabetes ◽  
Genomic Dna ◽  
Fasting Glucose ◽  
Glucose Levels ◽  
Intron 1 ◽  
Hba1c Levels

A possible role ofSnap25polymorphisms in type 2 diabetes mellitus (T2DM) was evaluated by analyzing three SNPs within intron 1 in a region known to affect the gene expression in vitro. Genomic DNA from 1019 Saudi individuals (489 confirmed T2DM and 530 controls) was genotyped for SNPs rs363039, rs363043, and rs363050 inSnap25using the TaqMan Genotyping Assay. Significantly higher levels of fasting glucose and HbA1c were detected in T2DM patients carrying the rs363050 (AG/GG) genotypes compared to the (AA) genotype (f=4.41,df=1, andp=0.03andf=5.31,df=1, andp=0.03, resp.). In these same patients, insulin levels were significantly decreased compared to the (AA) individuals (f=7.29,df=1, andp=0.009). Significant associations were detected between rs363050 (AG/GG) genotypes and increasing fasting glucose levels (p=0.01and OR: 1.05), HbA1c levels (OR: 5.06 andp=0.02), and lower insulinemia (p=0.03and OR: 0.95) in T2DM patients. The minorSnap25rs363050 (G) allele, which results in a reduced expression ofSnap25, is associated with altered glycemic parameters in T2DM possibly because of reduced functionality in the exocytotic machinery leading to suboptimal release of insulin.

scholarly journals Spontaneous Participation in Secondary Prevention Programs: The Role of Psychosocial Predictors

2020 ◽  
Vol 17 (17) ◽  
pp. 6298
Author(s):  
Alessandra Gorini ◽  
Mattia Giuliani ◽  
Giulia Marton ◽  
Laura Vergani ◽  
Simone Barbieri ◽  
...  
Keyword(s):  
Physical Activity ◽  
Secondary Prevention ◽  
Psychological Factors ◽  
Prevention Programs ◽  
Psychosocial Predictors ◽  
Willingness To Participate ◽  
Unemployed People ◽  
Psychological Determinants ◽  
High Social Support

Disease prevention is a multifaceted construct that has been widely studied. Nevertheless, in spite of its importance, it is still not sufficiently considered by the general population. Since the reasons for this lack of consideration are not yet fully understood, we created an Online Prevention Survey (OPS) to investigate the role of both sociodemographic and psychological factors in predicting individuals’ spontaneous participation in secondary prevention programs. The results revealed that younger people, men, manual workers, unemployed people, and those who do not regularly practise physical activity were less likely to spontaneously participate in such programs. Furthermore, an analysis of the psychological determinants of the willingness to participate in secondary prevention programs showed that depressive symptoms negatively predict it, while an individual’s perception of receiving high social support acts as a positive predictor. Based on these results, we suggest the need for implementing new tailored approaches to promote prevention initiatives to those segments of the population which are more reluctant to spontaneously undertake prevention paths.

Early Detection of Fabry Disease – The Important Role of Ophthalmology

2014 ◽  
Vol 08 (02) ◽  
pp. 127
Author(s):  
Colin Willoughby ◽  
Keyword(s):  
Fabry Disease ◽  
Genetic Disorder ◽  
Delayed Diagnosis ◽  
Cerebrovascular Complications ◽  
Life Threatening ◽  
Eye Examination ◽  
Systemic Symptoms ◽  
Stage Renal Disease ◽  
End Stage

The diagnosis of Fabry disease (FD; MIM #301500), a rare genetic disorder, is often missed or delayed as the systemic symptoms of FD show similarities to several other common medical conditions. Delayed diagnosis has significant clinical implications for the patient as FD can result in end-stage renal disease and life-threatening cardiovascular or cerebrovascular complications. Early diagnosis is preferable in achieving the best clinical outcomes for patients. FD demonstrates several classic ocular features, which are asymptomatic and observable through a routine eye examination. These features usually present early in the course of the disease and the identification of the ocular signs of FD offer a vital opportunity to diagnose FD, maximising the chance to improve patient outcomes.

Role of small nuclear RNAs in eukaryotic gene expression

2013 ◽  
Vol 54 ◽  
pp. 79-90 ◽  
Author(s):  
Saba Valadkhan ◽  
Lalith S. Gunawardane
Keyword(s):  
Gene Expression ◽  
Protein Interactions ◽  
Rna Stability ◽  
Splice Sites ◽  
Branch Site ◽  
Small Nuclear Rnas ◽  
Eukaryotic Gene Expression ◽  
Eukaryotic Gene ◽  
Rna Biogenesis

Eukaryotic cells contain small, highly abundant, nuclear-localized non-coding RNAs [snRNAs (small nuclear RNAs)] which play important roles in splicing of introns from primary genomic transcripts. Through a combination of RNA–RNA and RNA–protein interactions, two of the snRNPs, U1 and U2, recognize the splice sites and the branch site of introns. A complex remodelling of RNA–RNA and protein-based interactions follows, resulting in the assembly of catalytically competent spliceosomes, in which the snRNAs and their bound proteins play central roles. This process involves formation of extensive base-pairing interactions between U2 and U6, U6 and the 5′ splice site, and U5 and the exonic sequences immediately adjacent to the 5′ and 3′ splice sites. Thus RNA–RNA interactions involving U2, U5 and U6 help position the reacting groups of the first and second steps of splicing. In addition, U6 is also thought to participate in formation of the spliceosomal active site. Furthermore, emerging evidence suggests additional roles for snRNAs in regulation of various aspects of RNA biogenesis, from transcription to polyadenylation and RNA stability. These snRNP-mediated regulatory roles probably serve to ensure the co-ordination of the different processes involved in biogenesis of RNAs and point to the central importance of snRNAs in eukaryotic gene expression.

Sign in / Sign up

Export Citation Format

Share Document