The evolutionary value of landraces is immense, especially when bearing in mind the constant diminishment of crop genetic variability and the development of intensive agriculture. The assessment of morphological and agronomic traits of landraces, together with molecular markers, is certainly a good basis for the efforts toward their protection. Ten maize accessions, originating from the eastern Serbia, were characterized in this study by the use of morphological and molecular analysis. Since the morphological characterization was performed on the plant material grown on two different locations, environmental influence on the development of morphological traits was also addressed. The accessions were significantly differentiated in most of the characteristics that were measured. However, the results have indicated that the plants grown in two experimental plots were also significantly different due to influence of the different environmental conditions. Another part of the study was represented by the field survey conducted in the eastern Serbia, in the Homolje region, in order to determine the presence of the maize landraces and the extent of their utilization in the region. Traditional agricultural practices related to the cultivation of the maize landraces were found to be important for the preservation of the local maize varieties, as well as the cultural diversity related to the cultivation of this crop. However, it was also found that the cultivation of the maize landraces has substantially decreased during the last two decades and, nowadays, it is performed only on small parcels. The preservation of the landraces is a complex task, which should be approached not only through the conservation of the agricultural practices and in situ conservation, but also through proper management and evaluation of existing seed collections. This necessity should be widely recognized as the activity of the national and international interest.

Rett syndrome (RTT, MIM No. 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation. It is transmitted as an X-linked dominant trait, therefore almost exclusively affecting females. About 80% of RTT cases are sporadic caused by mutations in the MECP2 gene located on Xq28. The gene codes for two isoforms of the methyl-CpG-binding protein (MeCP2, MeCP2B) which are involved in transcriptional silencing through DNA methylation. The gene has 4 exons. The fourth one is the largest. Almost all mutations in MECP2 occur de novo. Although mutations are dispersed throughout the gene, about 67% of all MECP2 mutations, caused by C>T transitions at 8 CpG dinucleotides, are located in the third and fourth exon. The most common mutation is R168X. So far, there is no clear evidence on genotype-phenotype correlations. There are also reports claiming that the same mutation can provoke different phenotypes. It was shown that MeCP2 can silence certain genes. One of them, brain-derived neurotrophic factor, is essential for neural plasticity, learning and memory. This discovery revealed the role of MeCP2 in the control of neuronal activity-dependent gene regulation and suggested that the pathology of RTT may result from deregulation of this process.

Native propolis in vivo: On the oxidative/antioxidative effect and the mechanism of the action

The aim of this study was to reveal the CFTR gene mutation status in the Croatian population as well as to establish the haplotypes associated with cystic fibrosis (CF) and those associated with specific gene mutations. A total of 48 unrelated CF patients from Croatia were examined. Among 96 tested alleles, we found nine different mutations: DeltaF508, 58.33%; G542X, 3.12%; N1303K, 2.08%; R1162X; 621 + 1G --> T; G85E; Y569C; E585X; and S466X, 1.04%. Analysis of three polymorphic loci revealed 15 different haplotypes. Two of them (21-23-13 and 21-17-13) occurred with a higher frequency (40% and 24%). Both of these haplotypes also carried a CFTR gene mutation (DeltaF508 or G542X) on 27 out of 32 chromosomes. Among 12 (of all together 29) CF alleles on which no mutations were found, we detected 10 different haplotypes. Because there are still no published data on the distribution of polymorphic loci in Croatia, nor haplotypes associated with mutations in the CFTR gene, our results greatly contribute to knowledge regarding the genetic background of CF in this region.

Introduction: Neurobiological basis of posttraumatic stress disorder (PTSD) involves the alternations in different neurotransmitter systems such as noradrenalin, dopamine and serotonin. Monoamine oxydase (MAO) is an enzyme responsible for the degradation of different endogenous and exogenous amines. Endogenous amines involve neurotransmitters (noradrenaline, dopamine and serotonin) and therefore MAO plays a central role in the metabolism of monoamine neurotransmitters. There are two isoforms of MAO, MAO-A and MAO-B. These subtypes are encoded by two different genes, placed near each other on X chromosome (region Xp11.23-11.4). In platelets MAO exists in MAO-B isoform, and it has been proposed to be a biomarker for different personality characteristics and psychiatric disorders. Platelet MAO or MAO-B activity is under influence of various factors, such as smoking, gender, age, ethnicity, some neurodegenerative diseases and lithium or haloperidol treatment. One of the factors assumed to influence platelet MAO activity might be a polymorphism of MAO-B gene on the polymorphic region of the intron 13. The molecular basis of this polymorphism is A/G substitution 36 bp upstream from the intron 13-exon 14 boundary. Aim of the study was to determine the distribution of the MAO-B genotypes in Croatian war veterans with PTSD, in war veterans who were exposed to the similar combat experience but did not develop PTSD, and in healthy control subjects. Methods: The study included medication-free male Caucasian subjects who did not have neurodegenerative diseases: 91 war veterans with PTSD, 36 war veterans without PTSD and 100 healthy control subjects. DNA was isolated from their blood samples, and the method used for genotyping was a real-time PCR using Taqman – based allele – specific polymerase chain reaction assay. Results: The results showed no differences in the distribution of A allele or G allele of the MAO-B gene between healthy control subjects, war veterans without PTSD, war veterans with PTSD with psychotic symptoms and war veterans with PTSD with non-psychotic symptoms. Discussion: Therefore, no association was found in the allele frequencies of the MAO-B genotype in PTSD. In agreement with our data, no significant association between the allele frequency and A/G polymorphism in intron 13 of the MAO-B gene was found in schizophrenia, schizophrenia with or without tardive dyskinesia, schizophrenia with aggressive behavior, migraine, Parkinson’ s disease, or depressed state. Since our data did not confirm the hypothesis that the appearance of A allele or G allele is associated with the etiology or development of PTSD, further studies should evaluate other polymorphisms, presumably related to MAO-A gene, to determine functional significance and associations with different traits or disease.

Background: The neurobiology of posttraumatic stress disorder (PTSD) involves alterations in multiple neuroendocrine and neurotransmitter systems. Platelet monoamine oxidase (MAO-B) has been associated with susceptibility to various psychiatric disorders, personality traits and behaviors. Methods: Platelet MAO-B activity and MAO-B intron 13 polymorphism (a G/A substitution) were determined in male war veterans (n=106) with DSM-IV diagnosed current and chronic PTSD, divided into subgroups of PTSD patients with (n=28) or without (n=78) psychotic features, combat exposed veterans (n=41) who did not develop PTSD, and healthy control men (n=242). Results: Two-way ANOVAs revealed a significant effect of diagnosis and smoking, a significant effect of smoking, no significant effect of genotype, and no significant interaction between genotype, smoking or diagnosis, on platelet MAO-B activity. One-way ANOVAs showed significantly lower platelet MAO-B activity in smokers than in nonsmokers. After controlling for smoking, veterans with psychotic PTSD had significantly higher platelet MAO-B activity than veterans with or without PTSD, or healthy subjects. Limitations: The results were obtained on peripheral biochemical marker, i.e. platelet MAO activity. Conclusions: The MAO-B intron 13 polymorphism was not functional, and did not affect platelet MAO-B activity. The allele frequencies of the MAO-B genotype were similarly distributed among healthy controls and veterans with or without PTSD and/or psychotic symptoms. The results suggest that platelet MAO-B activity, controlled for smoking status, might be used as a peripheral marker of the psychotic symptoms in PTSD. © 2007 Elsevier B.V. All rights reserved.

The insulin-like growth factor (IGF) is a complex system of peptide hormones (insulin-like growth factors of type 1 and 2, IGF-1 and IGF-2), cell surface receptors (insulin receptor, IR; insulin-like growth factor receptors of type 1 and 2, IGF-R1, IGF-R2) and circulating binding proteins (insulinlike growth factor binding proteins, IGF-BP 1-6). IGF-1 and -2 are mitogens that play a role in regulating cell proliferation, differentiation and apoptosis. Their effects are mediated through the IGF-R1 which initiates signaling cascades that result in regulation of a number of biological responses. IGF-R2, together with IGF-BPs is involved in binding, internalization and degradation of IGF-2. IGF proteins regulate cell proliferation in an interconnected action via autocrine, paracrine and endocrine regulatory mechanisms. Consequently, any perturbation in each level of the IGF signaling proteins has been shown to be implicated in development and progression of numerous cancer types. The most important single components in this processes are IGF ligands as well as IGF-R1 - when disturbed they act as oncogenes. It has been shown that: (i) high serum concentrations of IGF-1 and IGF-2 are associated with an increased risk of breast, prostate, colorectal and lung cancers; and (ii) IGF-R1 is commonly disturbed in many tumours (like gastric, lung, endometrial cancer) leading to a phenotype of anchorage-independent tumour growth. In contrast, IGF-R2 is considered to act as a tumour suppressor gene; it protects the cells from neoplastic impulses. Consistent with the IGFs autocrine/paracrine regulation of tumour growth, cancer treatment strategies interfering with IGF-R1 signaling have been developed, that may be useful in future diagnostic and therapeutic strategies.

Introduction: Several neurobiological systems are dysfunctional in posttraumatic stress disorder (PTSD). An enzyme monoamine oxidase (MAO) occurs in two forms that differ in location, substrate and inhibitor specificities. MAO oxidizes different amines and neurotransmitters and regulates their concentration. Altered platelet MAO-B levels have been found in different psychopathologies, suggesting that it may be a biomarker for the particular disorders, personality traits and behaviors. The most common polymorphism of MAO-B gene is an A to G change, present in intron 13. The hypothesis was that PTSD would be associated with altered platelet MAO-B activity, due to the different distribution of the allele frequencies of the MAO-B genotype. Methods: Platelet MAO-B activity and MAO-B intron 13 polymorphism (a G/A substitution) were determined in 103 war veterans with DSM-IV diagnosed current and chronic PTSD, 41 combat exposed war veterans who did not develop PTSD, and 242 healthy control male subjects. PTSD patients were subdivided, according to the presence of psychotic symptoms (hallucinations or delusions on the psychotic module of the SCID, or specific disturbance in form of thoughts by mental status examination), assessed by the Positive and Negative Syndrome Scale, into subgroups of 28 patients with and 78 without psychotic features. Results: One-way ANOVAs showed that veterans with psychotic PTSD had significantly higher platelet MAO-B activity than veterans with or without PTSD, or healthy subjects, and that smokers had significantly lower platelet MAO-B activity than non-smokers in all groups. Two-way ANOVAs revealed significant effects of smoking, or diagnosis and smoking, but no significant effect of genotype, or interaction between genotype, smoking or diagnosis, on platelet MAO-B activity. The allele frequencies of the MAO-B genotype were similarly distributed among healthy controls and veterans with or without PTSD and/or psychotic symptoms. Conclusion: The MAO-B intron 13 polymorphism was not functional, and did not affect platelet MAO-B activity, indicating that other polymorphisms should be assessed to determine functional significance and associations with different traits or disease. The results suggest that platelet MAO-B activity, controlled for smoking status, might be used as a peripheral marker of the psychotic symptoms in PTSD.

Posttraumatski stresni poremecaj (PTSP) je težak psihijatrijski poremecaj, pracen razlicitim komorbidnim poremecajima, cesto kronicnog tijeka, koji financijski opterecuje cijelo drustvo i uzrokuje izrazitu patnju bolesnika i njihovih obitelji. Njegova neurobioloska podloga ukljucuje promjene u funkcioniranju razlicitih neurotransmitorskih i neuroendokrinih sustava. Genetske studije su potvrdile postojanje nasljednih cimbenika koji određuju sklonost razvoju PTSP-a, nakon sto je osoba izložena traumatskom događaju. Za sada se zna da se PTSP cesce javlja kod potomaka žrtava Holokausta te kod kambođanskih ratnih izbjeglica koji su bolovali od PTSP-a prema onim koji nisu bolovali od PTSP. Buduci da je PTSP kompleksan poligenski poremecaj, potrebno je istražiti osim bioloske i genetsku podlogu PTSP-a u svrhu boljeg razumijevanju nastanka, razvoja i lijecenja PTSP-a. Monoaminooksidaza (MAO) je enzim koji se javlja u dva oblika (MAO-A i MAO-B) i cija je uloga oksidativna deaminacija dopamina, serotonina, noradrenalina i adrenalina. Trombocitna MAO ili MAO-B se koristi kao pokazatelj razlicitih poremecaja ponasanja i psihijatrijskih poremecaja. Najcesci polimorfizam gena za MAO-B javlja se u ponavljajucoj regiji njegovog 13. introna, i to kao promjena jedne baze (A ili G). S obzirom na smjestaj polimorfizam ne utjece na strukturu gena, no radi utjecaja na efikasnost izrezivanja introna, polimorfizam može sudjelovati u regulaciji transkripcije gena za MAO-B, ili na stabilnost i/ili translaciju MAO-B mRNA. Neka su istraživanja uputila na povisenu aktivnost MAO-B kod osoba s G alelom. Buduci da MAO katalizira deaminaciju neurotransmitora koji su promijenjeni u PTSP-u, cilj ovog istraživanja bio je odrediti aktivnost MAO-B u trombocitima i distribuciju MAO-B genotipova (A/G supstitucija u 13. intronu gena za MAO-B) kod oboljelih od PTSP-a i usporediti ih s vrijednostima u kontrolnoj skupini pripadnika zdrave populacije, a sve u svrhu stjecanja novih spoznaja o etiologiji PTSP-a. U 103 veterana Domovinskog rata s kronicnim PTSP-om dijagnosticiranom prema DSM-IV kriterijima, 41 veterana koji nisu razvili PTSP, i 242 kontrolna muska ispitanika određeni su aktivnost MAO-B i MAO-B intron 13 polimorfizam pomocu flurimetrijske i RT-PCR metode. Veterani s PTSP-om bili su podijeljeni u 28 ispitanika s prisutnim psihotickim simptomima i 78 ispitanika bez psihotickih simptoma (halucinacije ili deluzije na psihoticnom modulu strukturiranog psihijatrijskog intervjua, ili specificni poremecaji kod pregleda mentalnog statusa, i pomocu Skale pozitivnih i negativnih sindroma). Veterani s psihotickim PTSP-om imali su znacajno visu aktivnost trombocitne MAO-B nego veterani s ili bez PTSP-a ili zdravi ispitanici. Aktivnost MAO-B bila je snižena u trombocotima pusaca prema nepusacima u svim skupinama. Pokazani su znacajni ucinci pusenja, dijagnoze i pusenja, ali ne genotipa, ili interakcije između genotipa, pusenja i dijagnoze, na aktivnost trombocitne MAO-B. Ucestalost pojavljivanja MAO-B genotipa bila je slicna među istraživanim skupinama. Polimorfizam na 13. intronu MAO-B gena nije bio funkcionalan, i nije utjecao na aktivnost MAO-B u trombocitima zdravih ispitanika ili veterana s ili bez PTSP-a, sa ili bez psihotickih simptoma. Povisene vrijednosti MAO-B upucuju na zakljucak da se psihoticki oblik PTSP-a razlikuje od nepsihotickog. Aktivnost MAO-B nadzire se vjerojatno pomocu drugih polimorfizama, koji su odgovorni za razlicite poremecaje ponasanja i psihicke poremecaje.

Neurobioloska podloga posttraumatskog stresnog poremecaja (PTSP) ukljucuje promjene u razlicitim neurotransmitorskim sustavima. Monoaminooksidaza tipa B (MAO-B) i katehol-o-metiltransferaza (COMT) su enzimi koji metaboliziraju noraadrenalin, dopamin i serotonin te tako utjecu na njihovu funkciju i mogu poslužiti kao periferni bioloski pokazatelji nekih psihijatrijskih poremecaja. Pretpostavlja se da na aktivnost ovih enzima, uz ostale cimbenike, utjecu i polimorfizmi njihovih gena. Monoamionooksidaza postoji u dvije izoforme (tip A i tip B), a geni za oba podtipa nalaze se jedan uz drugog na kromosomu X (regija Xp11.23-11.4). Gen za COMT nalazi se na 22. kromosomu (regija q11.2), a buduci da je ekspresija regulirana dvama razlicitim promotorima, gen kodira za dva proteina (COMT vezana za membranu i slobodna COMT). Hipoteza ovog rada je da postoji razlika u distribuciji genotipova MAO-B i COMT između skupina ispitanika oboljelih od PTSP i kontrolnih ispitanika. U ovom radu je kod tih skupina ispitanika određena distribucija genotipova MAO-B (supstitucija A/G u 13. intronu gena MAO-B) i COMT (supstitucija val158/108met). Koristena je DNA izolirana iz krvi ispitanika metodom isoljavanja. Ispitanici su podijeljeni u ratne veterane oboljele od PTSP-a (n=91), ratne veterane koji nisu oboljeli od PTSP (n=36) i zdrave ispitanike bez borbenog iskustva (n=100). Genotipizacija je izvrsena pomocu 'real-time' lancane reakcije polimeraze koristeci Taqman alel-specificne PCR. Rezultati istraživanja nisu pokazali razlike u distribuciji odredenih genotipiva za MAO-B i COMT u ispitivanih skupina, upucujuci na pretpostavku da su ti genotipovi vezani za skupine simptoma ili poremecaje kognicije, a ne za dijagnosticke entitete.

Abstract:  Rett syndrome (RTT) is an X‐linked dominant neurodevelopmental disorder almost exclusively affecting females and is usually sporadic. Mutations in MECP2 gene have been found in more than 80% of females with typical features of RTT. In this study, we analyzed 15 sporadic cases of RTT. In 7 of 15 patients (47%), we detected pathogenic mutations in the coding parts of MECP2 fourth exon. We found two missense (T158M, R133C), two nonsense (R168X, R270X), two frameshift mutations (P217fs and a double deletion of 28‐bp at 1132–1159 and 10‐bp at 1167–1176), and one in‐frame deletion (L383_E392del10). To our knowledge, the last two mutations have not been reported yet. We also detected one previously described polymorphism (S194S). In conclusion, these results show that the fourth exon should be the first one analyzed because it harbors most of the known mutations. Moreover, mutation‐negative cases should be further analyzed for gross rearrangements. This is the first study of its kind in Croatia and it enabled us to give the patients an early confirmation of RTT diagnosis.

Genetic susceptibility to tuberculosis includes several unknown yet different loci each contributing to a small extent. Intronic polymorphisms within the interferon‐γ (IFN‐γ) gene IFNG T+874A and IFNG G+2109A correlate with the IFN‐γ production in vitro, and the frequency of potential high IFN‐γ producers was previously reported by others to be lower in patients than in controls from Sicily. The aim of this study was to determine whether there is an association between polymorphisms in the IFN‐γ gene and predisposition to tuberculosis. We analysed two IFNG SNPs (T+874A and G+2109A) in patients (n = 253) hospitalized in Rijeka (Croatia) and controls (n = 519) from the same area. One‐fifth of the controls were healthy contacts of the diseased, and the rest were blood donors. IFNG alleles, their predicted haplotypes or genotypes were not associated with disease susceptibility. Thus, we could not reproduce results from Sicilian case‐control study. However, T/T+874 (possible high IFN‐γ producer) and +874A/A (putative low producer) genotypes were associated with microscopically positive–negative forms of disease. Haplotypes (T+874A and G+2109A) based on a prediction by software phase and subsequent genotype analysis corroborated these findings. Patients had significantly higher frequency of genotypes without T at +874 (AA/AA; AA/AG and AG/AG) in microscopy‐ or bacterial culture‐positive groups compared with their negative counterparts. These data suggest an association with disease severity rather than susceptibility to tuberculosis in Croatian Caucasian population.