Porucha pozornosti s hyperaktivitou – ADHD (Attention Deficit Hyperactivity Disorder) představuje široce rozšířenou neurobiologickou poruchu v dětském věku s poměrně vysokou mírou genetické podmíněnosti. Heritabilita symptomů ADHD je uváděna až na úrovni 75 %. Mechanizmus genetického přenosu však stále není zcela objasněn. Největší pozornost je v současné době zaměřena na geny dopaminergního a serotoninergního systému, ale i řadu genů dalších. Článek přináší souhrnné informace o nejvýznamnějších genetických asociacích u ADHD., Attention deficit hyperactivity disorder (ADHD) is a common, probably highly genetically conditioned, neurobiological disorder. Heritability of ADHD symptoms is up to about 75%. However, the mechanism is still not fully understood. Attention is focused mainly on genes of the dopaminergic and serotonergic system as well as many other genes. The paper presents a summary of the most significant genetic associations with ADHD., and H. Kuželová, M. Macek jr, J. Raboch, R. Ptáček
Waldenströmova makroglobulinemie (WM) je vzácné lymfoproliferativní onemocnění ze skupiny monoklonálních gamapatií, s incidencí 3 případy na 1 milion obyvatel. Toto onemocnění je charakterizováno infiltrací kostní dřeně klonálními B-lymfocyty a přítomností monoklonálního imunoglobulinu třídy IgM v séru. Nejčastěji se jedná o indolentní onemocnění s mediánem přežití 6 let. Molekulární podstata není zcela objasněná, ale delece, trizomie chromozomů 4 a 8 a delece 13q se zdají být typické pro WM. Mutace MYD88L265P a CXCR4WHIM se u WM vyskytují velice často a mají vliv na růst a přežití nádorových buněk. Tato práce se zaměřuje na současné poznatky o chromozomových aberacích a genových mutacích spojených s patofyziologií WM. Klíčová slova: chromozomové aberace – somatické mutace – Waldenströmova makroglobulinemie, Waldenstöm macroglobulinemia (WM) is a rare lymphoproliferative disorder, currently classified as a monoclonal gammopathy, with incidence rate of 3 per million. The disease is characterized by presence of clonal B lymphocytes in the bone marrow and by presence of monoclonal immunoglobulin IgM in serum. It is mostly an indolent disorder, with median overall survival 6 years. Molecular pathogenesis of WM remains unclear, but deletion of 6q and 13q, trisomy of chromosomes 4 and 8 seem to be typical. Mutations of MYD88L265P and CXCR4WHIM are very common for WM and affect growth and survival of malignant cells. This work is aimed at the current knowledge of chromosomal aberrations and gene mutations connected to the pathophysiology of WM. Key words: chromosomal aberrations – somatic mutations – Waldenström macroglobulinemia, and Kateřina Kutálková, Lenka Sedlaříková, Zdeněk Adam, Sabina Ševčíková
Osteoporóza je závažné onemocnění charakterizované vysokou morbiditou a mortalitou v důsledku atraumatických fraktur. Kromě vlivu vnějšího prostředí se v patogeneze osteoporózy uplatňují faktory vnitřní (hormonální nerovnováha a genetické pozadí). Článek podává přehled kandidátních genů pro osteoporózu, které klasifikuje podle metabolických okruhů regulujících minerální denzitu nebo kvalitu kosti (okruh estrogenní, RANKL/RANK/OPG, mevalonátový, okruh Wnt, geny pro kolagen a vitamin D). Zabývá se také perspektivou praktického využití farmakogenetiky (identifikace jednotlivých kandidátních genů pomocí PCR) nebo farmakogenomiky (plošné měření škály genů pomocí GWAS) při výběru optimální léčby osteoporózy. Potencionálními prediktory odpovědi na antiresorpční léčbu jsou geny pro ER, FDPS, Cyp19A1, VDR, Col 1A1 a gen pro signalizaci Wnt. Polymorfizmy genů CYP2C, ale také FDPS mohou naopak identifikovat nemocné s vysokým rizikem nežádoucí odpovědi na bisfosfonáty (osteonekróza čelisti). Limitujícím faktorem výzkumu genetiky osteoporózy je nedostatečný konsenzus výsledků asociačních studií. Vysvětlení kontroverzních výsledků lze hledat v rozdílných metodických přístupech (rozsah a homogenita souboru, etnické rozdíly nebo vazebná nerovnováha mezi geny). Klíčovým úskalím asociačních studií je nízká variabilita (7-10 %) kostních fenotypů, které souvisí se zkoumaným genem. Nicméně identifikace nových genů a ověřování jejich asociace s kostními parametry oběma metodami zůstává velkou výzvou s cílem optimalizace prevence a léčby osteoporózy., Osteoporosis is a serious disease characterized by high morbidity and mortality due to atraumatic fractures. In pathogenesis of osteoporosis, except environment, internal factors, such as hormonal dysbalance and genetic background, are also in play. In this review, candidate genes for osteoporosis are classified accorging to metabolic or hormonal pathways, which regulate bone mineral density/and or quality (estrogen, RANKL/RANK/OPG, mevalonate, Wnt circuit, genes for collagen and vitamin D). Authors discuss the perspectives of practical utilization of pharmacogenetics (identification of single candidate genes using PCR) or pharmacogenomics (using genome wide association studies) in choise of optimal treatment of osteoporosis. Potentional predictors of effectivity of antiresorption therapy are genes ER, FDPS, Cyp19A1, VDR, Col1A1 and gene of Wnt pathway. Moreover, polymorphisms of CYP2C gene, but also FDPS may identify patients with high risk of undesirable effects of bisphosphonates (osteonecrosis of jaw). Unfortunately, results of the most association studies has not been confirmed by other investigators. The controversial results could be explained by different methodic approches in individual studies (different sample size, homogenity of investigated groups, ethnic differences or linkage disquilibrium between genes). Key cliff of association studies is low variability (7-10 %) of bone phenotypes associated with investigated genes. Nevertheless, identification of new genes and verification their association with bone denzity and/or quality using both PCR and genome wide association studies remain to be a great challenge targeting optimal prevention and treatment of osteoporosis., and Ivana Žofková, Radoslav Omelka
The work of a research team led by Professor Jaroslav Doležel at the Institute of Experimental Botany AS CR has contributed to an article in the journal Science. The International Wheat Genome Sequencing Consortium published a draft sequence of the bread wheat genome in the journal. The genetic blueprint of the wheat genome was obtained using the chromosome-based strategy developed by Professor Doležel’s team. The chromosome-based draft provides new insight into the structure, organization, and evolution of the large, complex genome of the world’s most widely grown cereal crop. The genetic blueprint is an invaluable resource to plant science researchers and breeders. For the first time, they have at their disposal a set of tools enabling them to rapidly locate specific genes on individual wheat chromosomes throughout the genome. and Jaroslav Doležel.
Brazilian native meliponines are currently threatened by increased human impacts. The assessment of their genetic variation by microsatellite DNA markers can assist in the conservation of populations and help in the planning and establishment of efficient management strategies. The purpose of this study was to develop the first set of microsatellite markers for Melipona fasciculata, selected from partial genome assembly of Illumina paired-end reads. Primer pairs were designed for each detected locus at their flanking regions. Bee samples were genotyped from two different populations of Northeastern Brazil for marker characterization and validation. A total of 17 microsatellite loci displayed polymorphism. Mean HE and HO heterozygosities were 0.453 and 0.536, respectively. PIC across all loci ranged from 0.108 to 0.714. A genetic diversity analysis revealed high values for population differentiation estimates (FST = 0.194, RST = 0.230, and Dest = 0.162) within the investigated region. PCoA and Bayesian clustering showed a separation of the species into two distinct clusters. These microsatellite markers have demonstrated strong potential for population-level genetic studies. Moreover, the preliminary analysis of the genetic diversity in M. fasciculata provides provisional evidence of significant population differentiation between the two studied populations., Geice Ribeiro Da Silva, Isis Gomes De Brito Souza, Fabia De Mello Pereira, Bruno De Almeida Souza, Maria Teresa Do Rego Lopes, Paul Bentzen, Fabio Mendonça Diniz., and Obsahuje bibliografii
The genetic variation in low temperature sensitivity of eight tomato genotypes grown at suboptimal temperature (19 °C) and at low irradiance (140 pmol m'2 s**) was assessed at the plant, chloroplast and thylakoid membrane levels. Temperature effects on the thylakoid membrane were determined by measuring the maximum fluorescence (Fp) and the maximal fluorescence rise (ADP) of induction traces of leaf discs at decreasing temperatures (30, 28, ... 0 °C). Two discontinuities were found in Fp versus temperature curves: a low temperature break at ca. 12 °C (LTB) and a high temperature break at ca. 22 °C (FITB). Below LTB, sFp and sDP were determined as the temperature induced changes in Fp, respectively ADP. Chloroplast functioning was determined by measuring net CO2 fixation rate (E^) of leaves. Plant performance was determined by measuring the increase in leaf area and sho ot dry mass in time. Correlations between the various parameters were analysed across the genotypic variation found. Chlorophyll (Chl) fluorescence parameters were not correlated with plant performance at suboptimal growth conditions. of leaves was correlated with plant performance, but only at ambient CO2. Effects of stomatal resistance on were large. The Chl fluorescence parameters LTB, sFp and sDP could distinguish between tomato genotypes. Nevertheless, the ranking of the genotypes depended on the specific parameter selected, indicating that each parameter assessed a different aspect of the heterogeneous temperature dependence of Chl fluorescence induction. Their genetic variation suggested that the genotypes differed in the organisation and fimctioning of the thylakoid membrane. These differences were not reflected in of leaves or plant performance.
Hypertrofická kardiomyopatie (HCM) je nejčastější geneticky podmíněné srdeční onemocnění s prevalencí 1 : 500. Ve familiárních případech je dědičnost autozomálně dominantní s neúplnou penetrancí a různou expresivitou, může ovšem vznikat i de novo mutacemi. Nesmírná heterogenita projevů i prognózy HCM případ od případu značně komplikuje klinický management, a proto toto onemocnění stále často přináší mnoho otázek nejen pro lékaře prvního kontaktu, ale i pro kardiology. Stanovení rizika náhlé srdeční smrti u pacientů s HCM je integrální součástí klinického managementu a doporučení pro stratifikaci se neustále vyvíjí. V této kazuistice prezentujeme případ familiární HCM u dvou bratrů nesoucích stejnou mutaci s velmi rozdílným klinickým nálezem a průběhem., Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease with a prevalence of 1 : 500. In familial cases the inheritance is autosomal dominant with non‑complete penetrance and variable expression; however, it can also be caused by de novo mutations. The heterogeneity of both its presentation and prognosis from case to case largely complicates clinical management, and therefore the disease often represents a dilemma for primary care clinicians as well as cardiologists. An estimation of sudden cardiac death risk is an integral part of clinical management and the stratification guidelines are continuously developing. We report on a case of familial HCM in two brothers with the same gene mutation, with very different clinical presentations and consequences., and Kilianová A., Špinarová M., Špinarová L., Grochová I., Feitová V., Krejčí J.
Prof. Jiří Velemínský was in particular an extraordinary and enthusiastic scientist. He was one of the first who investigated botanical genetics on the molecular level, thus he is regarded as founder of this research field in the Czech Republic. Prof. Jiří Velemínský was an excellent organizer of Czech research activities and also he was an outstanding personality. He died 23 February 2008. and Helena Illnerová.
The region of Central Europe, Adriatic region and Balkan Peninsula were subjects of geo-kine matical monitoring in several projects performed since 1992. Independent GPS epoch-wise observing campaigns took place in several regions and the whole territory is now covered by tens of permanent stations. The long-term observational series from permanent stations generally yield reliable site velocities, however distribution of such stations is not dense enough to provide velocity field with sufficient resolution all over the monitored region. On the other si de the epoch-wise campaigns sites are much denser than the permanent ones, however the repeated epoch observations are not very frequent and their referencing is not unique. In the paper we shortly describe velo city fields available from various national and regional GPS geo-kinematics projects and an attempt to homogenize the heterogeneous velocity fields is presented. The intraplate GPS velocities in Central and South-East Europe and their reliability are discussed, mainly focusing on Adria and East Balkan region where the geo-kinematics is mostly variable and complicated., Ján Hefty., and Obsahuje bibliografické odkazy