5 research outputs found
Study of Trait Alliance with Grainyield, Its Attributes of Different Land Races of Maize (Zea MaysL.)
No full textThe research was carried out to study the correlation and path coefficient analysis of 51 different land races of maize for yield and component traits. Analysis of correlation between different characters suggested that the value of genotypic correlation were somewhat higher as compared to their corresponding phenotypic correlations signified the inherent relationship among the characters. Grain yield kg per ha. showed significant positive association with days to 50% pollenshed, days to 50% silking, days to 75% dry husk, number of cobs per plot, cob weight per plot and shalling perportion at both genotypic and phenotypic levels. Path co-efficient analysis revealed that the maximum positive direct effects of cob weight per plot, shelling perportion, ear height and number of cobs per plot towards grain yield. This finding suggested that more emphasis should be given to number of cobs per plot, cob weight per plot and shalling perportion in selection programmes aiming to improve grain yield in maize.</jats:p
Alexithymia in Alzheimer’s Disease
No full textAlexithymia is widely recognized as the inability to identify and express emotions. It is a construct which consists of four cognitive traits such as difficulty in identifying feelings, describing feelings to others, externally oriented thinking, and limited imaginative capacity. Several studies have linked alexithymia to cognitive functioning, observing greater alexithymia scores associated with poorer cognitive abilities. Despite Alzheimer’s disease (AD) being a neurodegenerative pathology characterized by cognitive troubles from the early stages, associated to behavioral and emotional disturbances, very few investigations have studied the alexithymia in AD. These studies have shown that alexithymia scores—assessed with Toronto Alexithymia Scale (TAS)—were greater in AD patients than healthy participants. The objective of the study was to investigate if the alexithymia was present in patients with mild AD. We hypothesized that the AD group would show more alexithymia features than the control group. We evaluated 54 subjects, including 27 patients diagnosed with mild AD and 27 normal healthy controls, using the Shalling Sifneos Psychosomatic Scale (SSPS-R) and a neuropsychological test battery. Using non-parametric statistical analyses—Wilcoxon and Mann–Whitney U tests—we observed that the SSPS-R scores were similar in the AD and control groups. All participants showed SSPS-R scores below to 10 points, which means no-alexithymia. We did not find significant correlations between SSPS-R scores and cognitive variables in both groups (p > 0.22), but we observed a negative association between name abilities and alexithymia, but it does not reach to significance (p = 0.07). However, a significant correlation between SSPS-R score and mood state, assessed using Zerssen Rating Scale, was found in both groups (p = 0.01). Because we did not find a significant difference in the alexithymia assessment between both subject groups, pot hoc analyses were computed for each item of the SSPS-R. We made comparisons of alexithymic responses percentages in each SSPS-R item between AD and control groups, using Fisher’s test. We observed that AD patients produced more alexithymic responses in some items of SSPS-R test than the control group, particularly about difficulties to find the words to describe feelings, as well as difficulties of imagination capacity and externally oriented thinking. The present results do not confirm our hypothesis and they do not support the results of previous studies revealing great alexithymia in AD
Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection
No full textIdentification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). The purpose of this study was to elucidate the genetic backgrounds of autosomal dominant progressive external ophthalmoplegia (adPEO) and familial inyasthenia gravis (FMG).The methods applied in this study for linkage analysis and repeat expansion were tested in a family with oculopharyngeal muscular dystrophy (OMPD). The results supported the linkage of this family to chromosome 14q I 1.2-q 13, which had been reported, and did not reveal any expanded CAG/CTG repeats in this family. (Paper I)A genome wide linkage screening was first applied to map the disease locus in a large Pakistani family with adPEO, commonly considered as a mitochondrial disorder because of the finding of multiple deletions of mtDNA. The disease locus was assigned to an I I cM region in chromosome 1 Oq23 -24, and taken together with previously published findings in a single Finnish family a critical region of 7 cM between DlOS198 and DIOS1795 was revealed. (Paper II)One EST (expressed sequence tag) homologous to yeast mitochondrial RNA splice 4 (MRS4) within the critical region was identified. The gene, hMRS314, was cloned and found to have two splicing forms corresponding to a 364 aa and a 177 aa form. Northern blot analysis showed that both forms are ubiquitously expressed, the 177 aa form at comparable levels in the different tissues and the 364 aa form at a relative abundance in skeletal muscle, heart and liver. The mitochondrial protein localization was demonstrated in targeting experiments and in yeast compensation experiments the growth defects of double knockouts of mrs3 degrees and 4degrees growth was restored. The yeast homologues MRS3 and 4, identified by BLAST searching, are members of the gene superfamily of mitochondrial carrier family (MCF). The conservative structure of MCF is well kept in hMRS314 as revealed by multi-alignment of hMRS3/4 with other members of MCF. DNA sequencing of this gene did not show any differences between the adPEO patients and the control. (Paper III)Another gene, Twinkle was cloned from the critical region. Twinkle encodes 684 aa while Twinky, the splice form, encodes 582 aa. BLAST searching showed homology to T7 primase/helicase, and the mitochondrial nucleoid localization demonstrated in targeting experiments. At Western blotting Twinkle was found to form high order multimers while Twinky was detected as a monomer. Multimerization is a feature of the family of ring helicase, which T7 primase/helicase belongs to. A total of 11 mutations were found in 12 families with adPEO including the two reported chromosome 10q-linked families. Targeting and multimerization experiments did not show any differences between the mutants and the wildtype. (Paper IV)A unique Hungarian family was genetically characterized, in which ten members were affected by dominantly inherited myasthenia gravis (MG). The possible involvement of known candidate genes was excluded by mutation screening and linkage analyses of gene loci reported to be mutated in the closely related congenital myasthenia syndrome or linked to MG from association studies. A variant of anticipation was observed in this family RED analysis was therefore carried out, which detected long CAG/CTG repeats in the affecteds, however the repeats were located on the normally expanded ERDA1 locus (Paper V).By genotyping a total of 695 microsatellite markers genome-widely a maximum lod score of 3.31 was obtained for D13S1265 at 0% recombination fraction, thus assigning the disease locus to 13q34 between D13S778 and D13SI315 with 5 cM distance. DNA sequencing of the coding regions of three candidate genes did not show any difference between affected patient and the control. (Paper VI)List of scientific papersI. Teh BT, Sullivan AA, Farnebo F, Zander C, Li FY, Strachan N, Schalling M, Larsson C, Sandstrom P (1997). "Oculopharyngeal muscular dystrophy (OPMD)--report and genetic studies of an Australian kindred. " Clin Genet 51(1): 52-5 https://pubmed.ncbi.nlm.nih.gov/9084936II. Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C (1999). "Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24." Neurology 53(6): 1265-71 https://pubmed.ncbi.nlm.nih.gov/10522883III. Li FY, Nikali K, Gregan J, Leibiger I, Schweyen R Larsson C, Soumalainen A. (2001). "Characterization of a putative novel human mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4." FEBS Letter (Submitted)IV. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Poulton J, Croxen R, Beeson D, Soumalainen A, Jacobs HT, Zeviani M, Larsson C (2001). "Human mitochondrial DNA instability caused by defective Twinkle, a phage T7 primase/helicase-like protein localized in mitochondrial nucleoids." (Submitted)V. Li FY, Szobor A, Croxen R, Anselmo V, Yuan QP, Lindblad K, Shalling M, Komoly S, Beeson D, Larsson C (2001). "Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci." Int J Mol Med 7: 289-94VI. Li FY, Szobor A, Croxen R, Anselmo V, Komoly S, Beeson D, Larsson C (2001). "Mapping of a disease locus for dominantly inherited autoimmune myasthenia gravis to a 5 cM region in 13q34." (Submitted)</p
Fat mass, adipokines and clinical complications of chronic kidney disease
No full textPatients with chronic kidney disease (CKD), irrespective of initial etiology, have a risk of cardiovascular morbidity (CVD) and mortality that is many-fold higher than that of a similar person without CKD. While traditional risk factors, such as hyperlipidemia, certainly contribute, these factors cannot by themselves explain the burden of CVD. Recent data suggest that endocrine signaling of fat mass may lead to the complex of CVD risk factors known as the metabolic syndrome. In the following work, we test the hypothesis that an uremic metabolic syndrome caused by aberrant adipose tissue signaling may contribute to inflammation and metabolic disturbances in CKD.Study I. In a cross-sectional study of 187 incident patients starting dialysis therapy we measured several inflammatory cytokines and adipokines and related these to total and truncal fat mass as estimated by dual-energy x-ray absorptiometry (DEXA). We found that truncal, but not non-truncal, fat mass was associated with circulating levels of both interl eukin(IL)-6 and C-reactive protein (CRP).Study II. In a study of 197 incident CKD patients evaluated shortly before the start of dialysis, we showed that patients with elevated fat mass, although having elevated inflammatory markers, are less likely to need recombinant erythropoietin (epoetin), and that epoetin dose is associated with circulating levels of leptin.Study III. This is a post hoc, cross-sectional study comparing 239 CKD patients with varying degrees of renal function impairment with an age- and gender-matched randomly selected control group of 24 individuals. We explored the role of decreased renal function on the adipokine resistin, apparently able to inhibit hepatic insulin action in mice We also investigate possible links with inflammation (CRP, IL-6) and the insulin resistance (QUICKI, HbA1c%) present in patients with CKD. While resistin is strongly related to renal function and inflammation, we could find no links to surrogate markers of insulin resistance.Study IV. In a longitudinal study of 158 CKD, patients with varying degrees of renal failure, we explored the relationship between changes in body fat (DEXA) and tissue resident macrophages (assessed by measuring sCD163), as well as links to systemic inflammation (IL-6, CRP). We concluded that an increase in fat mass is associated with increased sCD163, a surrogate marker of macrophages, and more inflammation in CKD patients.Study V. Again using a cross-sectional design of 189 prevalent CKD patients, we investigated putative links between the adipokine visfatin and insulin resistance in CKD. We conclude that while a reduced renal function and inflammation both independently predict visfatin levels, visfatin is not associated with QUICKI or HbA1c%. However, increased circulating visfatin was associated with endothelial adhesion molecules (sVCAM-1) and a higher mortality rate.Study VI. Using a Mendelian randomization approach in a cohort of 198 incident CKD patients starting dialysis, we show significant differences in serum lipids between functional genotypes of alpha2Heremans-Schmid glycoprotein (AHSG) as well as a significant association between AHSG and fat mass (DEXA).Conclusions. In patients with chronic renal disease, total and, especially, truncal fat mass is associated with increased circulating levels of several cytokines and adipokines that have may influence cardiovascular health and outcome. Thus, further studies are needed to evaluate the impact of fat mass and adipokines on outcome in this patient group.List of scientific papersI. Axelsson J, Rashid Qureshi A, Suliman ME, Honda H, Pecoits-Filho R, Heimburger O, Lindholm B, Cederholm T, Stenvinkel P (2004). Truncal fat mass as a contributor to inflammation in end-stage renal disease. Am J Clin Nutr. 80(5): 1222-9. https://pubmed.ncbi.nlm.nih.gov/15531669II. Axelsson J, Qureshi AR, Heimburger O, Lindholm B, Stenvinkel P, Barany P (2005). Body fat mass and serum leptin levels influence epoetin sensitivity in patients with ESRD. Am J Kidney Dis. 46(4): 628-34. https://pubmed.ncbi.nlm.nih.gov/16183417III. Axelsson J, Bergsten A, Qureshi AR, Heimburger O, Barany P, Lonnqvist F, Lindholm B, Nordfors L, Alvestrand A, Stenvinkel P (2006). Elevated resistin levels in chronic kidney disease are associated with decreased glomerular filtration rate and inflammation, but not with insulin resistance. Kidney Int. 69(3): 596-604. https://pubmed.ncbi.nlm.nih.gov/16395259IV. Axelsson J, Moller H, Qureshi AR, Witasp A, Heimburger O, Barany P, Alvestrand A, Lindholm B, Moestrup S, Stenvinkel P (2006). Changes in fat mass are associated with changes in CD163, a marker of activated macrophages, in patients with chronic kidney disease. [Manuscript]V. Axelsson J, Witasp A, Carrero JJ, Qureshi AR, Suliman M, Heimburger O, Barany P, Lindholm B, Alvestrand A, Shalling M, Nordfors L, Stenvinkel P (2006). Circulating levels of visafatin/pre-B cell colony-enhancing factor are influenced by genotype and are associated with markers of endothelial dysfunction and survival in patients with chronic kidney disease. [Manuscript]VI. Axelsson J, Wang X, Ketteler M, Qureshi AR, Carrero JJ, Heimburger O, Barany P, Lindholm B, Nordfors L, Stenvinkel P (2006). Circulating levels of alpha2-Heremans-Schmid glycoprotein/fetuin-A are associated with multiple aspects of the metabolic syndrome in patients with chronic disease (CKD). A Mendelian randomized approach. [Manuscript]</p
