Role of the Apolipoprotein A5 Gene's Natural Polimorphysms in the Development of Metabolic Syndrome

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A morphometric and molecular study of the genus Pseudopodisma (Orthoptera: Acrididae)

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Data on the terrestrial Isopoda fauna of the Alsó-hegy, Aggtelek National Park, Hungary

Field surveys in dolines of Alsó-hegy, Aggtelek Karst (Hungary) yielded 10 terrestrial isopod species. Despite of the relatively low species richness, we would like to emphasize the high naturalness of the area indicated by the presence of endemic and rare species

Az 5q31 kromoszóma régió funkcionális variánsai: kapcsolat poligénes betegségek és a karnitin rendszer között. = Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system.

Az 5q31-es kromoszóma régióra nem véletlenül esett a választás: korábban is, jelenleg is olyan régiót jelenít meg az említett szakasz, melyben egyrészt megtalálható a magas affinitású plasmalemmalis karnitin transzporter génje, ezen túlmenően, itt található egy olyan cluster, ami a gyulladásos bélbetegségek (IBD) bizonyos hajlamosító génjeit tartalmazza, de ez a citokin cluster hordoz hajlamosító géneket rheumatoid arthritis kialakulása irányában is. A mai napig megválaszolatlan kérdés: lehet valamilyen kapcsolat a karnitin metabolizmusa, és az említett poligénes betegségek kialakulása között? Kutatásaink során vizsgáltuk a karnitin észretek spektrumának alakulását bizonyos állapotokban, jelentős biobank rendszert hoztunk létre, melyek segítségével a Crohn betegség, az ulcerítv colitis, valamint a rheumatiod arthrtistis hazai populációs mintáiban fellelhető specifikus hajlamosító avagy védő génjeit tanulmányoztuk. Vizsgáltuk a triglicerid metabolizmusban szerepet játszó genetikai variánsokat, ezen gének esetleges hajlamosító avagy védő természetét különböző cerebrovasculáris betegségekben, mint a különböző stroke típusok. Az 5q31-es régió mint az egész kromoszómakészlet egy része jelent meg egy array alapú populációgenetikai tanulmányunkban, melyben a hazánkban élő Roma népességmintákat használtuk fel populáció eredet tanulmányozására, próbáltuk meg elhelyezni a Roma genetikai sajátosságokat az indiai populációs tengelyen (Indan cline). | The selection of 5q31 chromosome region was not just a coincidence: as it was believed previously and nowadays as well, this region contains either the gene of the high affinity plasmalemmal carnitine transporter, moreover, a cluster can elso be found here in this region that exhibit susceptibility for inflammatory bowel diseases (IBD), and this cytosine cluster also contains certain genes of rheumatoid arthritis susceptibility or protection. The question is still unanswered: is there any relationship between the metabolism of the carnitine and the development of these polygenic diseases? We investigated the carnitine ester spectrums under different physiological and pathological conditions, and also created significant biobanks to aim the research of the Crohn's disease, ulcerative colitis, and rheumatoid arthritis susceptibility and protection genes in specific Hungarian cohorts. We studied selected genetic variants and minor alleles influencing the metabolism of triglycerides, their risk-conferring or protecting nature for cerebrovascular diseases, like for different subtypes of stroke. The 5q31 region was just a part of the whole human genome in an array based population genetic study of us, in which we investigated the origin of the Hungary living Roma populations, reconstructing their possible Indian origin, fitting their data to the Indian cline

A morphometric and molecular study of the genus Pseudopodisma (Orthoptera: Acrididae)

The specific status of three described taxa belonging to the genus Pseudopodisma (P. fieberi, P. transilvanica, P. nagyi) is based on a single character, because the original descriptions separate the species solely on the basis of genital structure of the males, and the three species are seemingly indistinguishable based on external morphology. To test this taxonomic separation we conducted morphometric and molecular investigations in the genus. Males were a priori identified by the original descriptions of the taxa, and from 18 external morphometric characters collected, the six most eligible characters of males and females were selected for linear discriminant analysis. The linear discriminant based classification agreed for 35 (85.3%) male and 30 (88.2%) female specimens out of the 41 a priori identified males and 34 females. Besides morphometrics, we sequenced the cytochrome b gene with newly devised primers in all species plus two outgroups. The phylogenetic analysis of resulting sequences indicated a strong species-delimitation within the genus Pseudopodisma (i.e., multiple individuals of the a priori species formed monophyletic clades). Thus, taking the morphometric and molecular results into consideration, we conclude the validation of specific status of Pseudopodisma fieberi, P. nagyi and P. transilvanica within the genus

Data on the terrestrial Isopoda fauna of the Alsó-hegy, Aggtelek National Park, Hungary

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Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb,and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder

Genome sequences of three turkey orthoreovirus strains isolated in Hungary

We have investigated the genomic properties of three turkey reovirus strains—19831M09, D1246, and D1104—isolated in Hungary in 2009. Sequence identity values and phylogenetic calculations indicated genetic conservativeness among the studied Hungarian strains and a close relationship with strains isolated in the United States

Emergence of Serotype G12 Rotaviruses, Hungary

We describe the emergence of serotype G12 rotaviruses (67 [6.9%] of 971 specimens tested) among children hospitalized with rotavirus gastroenteritis in Hungary during 2005. These findings are consistent with recent reports of the possible global spread and increasing epidemiologic importance of these strains, which may have implications for current rotavirus vaccination strategies

GCKR gene functional variants in type 2 diabetes and metabolic syndrome: do the rare variants associate with increased carotid intima-media thickness?

BACKGROUND: Recent studies revealed that glucokinase regulatory protein (GCKR) variants (rs780094 and rs1260326) are associated with serum triglycerides and plasma glucose levels. Here we analyzed primarily the association of these two variants with the lipid profile and plasma glucose levels in Hungarian subjects with type 2 diabetes mellitus and metabolic syndrome; and also correlated the genotypes with the carotid intima-media thickness records. METHODS: A total of 321 type 2 diabetic patients, 455 metabolic syndrome patients, and 172 healthy controls were genotyped by PCR-RFLP. RESULTS: Both GCKR variants were found to associate with serum triglycerides and with fasting plasma glucose. However, significant association with the development of type 2 diabetes mellitus and metabolic syndrome could not be observed. Analyzing the records of the patients, a positive association of prevalence the GCKR homozygous functional variants and carotid intima-media thickness was found in the metabolic syndrome patients. CONCLUSIONS: Our results support that rs780094 and rs1260326 functional variants of the GCKR gene are inversely associated with serum triglycerides and fasting plasma glucose levels, as it was already reported for diabetic and metabolic syndrome patients in some other populations. Besides this positive replication, as a novel feature, our preliminary findings also suggest a cardiovascular risk role of the GCKR minor allele carriage based on the carotid intima-media thickness association