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Senemar S.,Human Genetics Research Group | Ganjekarimi A.H.,Shiraz University of Medical Sciences | Tarami B.,Shiraz University | Bazrgar M.,Human Genetics Research Group
Iranian Journal of Public Health

Background: The aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007-2008 to find out whether screening was necessary for Iranian newborns or not and also what the symptoms of this disease before or after diet were. Methods: The data were collected from 24000 newborn babies from Fars Province, southern Iran. The enzymatic calorimetric test was done on their blood and Red questions from the children's parents. For treatment, free lactose milk or soya milk have been used for the feeding of the newborns. Results: The prevalence of galactosemia in Fars Province was 5:24000 in neonates, being more than those reported among the white race are and Asians are. The maximum clinical symptoms before diet in 10 days after birth were vomiting and jaundice and those after using diet were sepsis, full fontanels, and hepatic failure. Conclusion: Consanguineous marriage is a major cause of inheritance of the disease in Iran. The number of familial marriage in children's parents was very high. Screening should be executed for all of the families with a history of Galactosemia in Iran. To the best of our knowledge, this is the first large study report on the prevalence of Galactosemia in Iran. Source

Yanatatsaneejit P.,Human Genetics Research Group | Boonsrang A.,Human Genetics Research Group | Mutirangura A.,Chulalongkorn University | Patel V.,Cancer Research Initiatives Foundation CARIF | Kitkumthorn N.,Mahidol University
Asian Pacific Journal of Cancer Prevention

Objective: To clarify the association between the p53 polymorphism at codon 72 and susceptibility to the sporadic keratocystic odontogenic tumor (KCOT). Design: One hundred KCOTs and 160 match-group healthy controls were genotyped to ascertain the frequency of the p53 codon 72 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), confirmed by direct sequencing. Results: The frequencies of the Pro/Pro, Arg/Pro, and Arg/Arg genotypes were 23.8%, 49.4%, and 26.9%, respectively, in the controls, while the KCOT cohort demonstrated 43.0%, 39.0%, and 18.0%, respectively. Further analysis suggested that p53 Pro could be a KCOT-susceptible allele (OR (95%CI)=1.77 (1.22 to 2.59), p=0.0024), with a sex-adjusted OR (95%CI) of 1.71 (1.17-2.50), p=0.0046. Moreover, the results indicated that p53 codon 72 Pro homozygous was associated with a two-fold risk of developing KCOT (adjusted OR (95%CI) =2.17(1.23-3.84), p=0.0062). Conclusions: The C/C genotype of P53 gene codon 72 increases the risk of developing sporadic KCOT and may be a useful tool for screening and diagnostic purposes. Source

Codina M.,Human Genetics Research Group | Codina M.,Biomedical Diagnostic Center | Estanyol J.M.,University of Barcelona | Fidalgo M.J.,University of Barcelona | And 3 more authors.
Expert Review of Proteomics

The recent application of mass spectrometry to the study of the sperm cell has led to an unprecedented capacity for identification of sperm proteins in a variety of species. Knowledge of the proteins that make up the sperm cell represents the first step towards understanding its normal function and the molecular anomalies associated with male infertility. The present review starts with an introduction of the sperm cell biology and is followed by the consideration of the methodological key aspects to be aware of during sample sourcing and preparation, including data interpretation. It then overviews the initiatives developed so far towards the completion of the sperm proteome, with a particular focus in human but with the inclusion of some comments on different model species. Finally, all studies performing differential proteomics in infertile patients are reviewed, pointing to future potential applications. © Informa UK, Ltd. Source

Amaral A.,Human Genetics Research Group | Amaral A.,University of Coimbra | Castillo J.,Human Genetics Research Group | Estanyol J.M.,University of Barcelona | And 3 more authors.
Molecular and Cellular Proteomics

Proteomic studies are contributing greatly to our understanding of the sperm cell, and more detailed descriptions are expected to clarify additional cellular and molecular sperm attributes. The aim of this study was to characterize the subcellular proteome of the human sperm tail and, hopefully, identify less concentrated proteins (not found in whole cell proteome studies). Specifically, we were interested in characterizing the sperm metabolic proteome and gaining new insights into the sperm metabolism issue. Sperm were isolated from normozoospermic semen samples and depleted of any contaminating leukocytes. Tail fractions were obtained by means of sonication followed by sucrose-gradient ultracentrifugation, and their purity was confirmed via various techniques. Liquid chromatography and tandem mass spectrometry of isolated sperm tail peptides resulted in the identification of 1049 proteins, more than half of which had not been previously described in human sperm. The categorization of proteins according to their function revealed two main groups: proteins related to metabolism and energy production (26%), and proteins related to sperm tail structure and motility (11%). Interestingly, a great proportion of the metabolic proteome (24%) comprised enzymes involved in lipid metabolism, including enzymes for mitochondrial beta-oxidation. Unexpectedly, we also identified various peroxisomal proteins, some of which are known to be involved in the oxidation of very long chain fatty acids. Analysis of our data using Reactome suggests that both mitochondrial and peroxisomal pathways might indeed be active in sperm, and that the use of fatty acids as fuel might be more preponderant than previously thought. In addition, incubation of sperm with the fatty acid oxidation inhibitor etomoxir resulted in a significant decrease in sperm motility. Contradicting a common concept in the literature, we suggest that the male gamete might have the capacity to obtain energy from endogenous pools, and thus to adapt to putative exogenous fluctuations. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Source

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