Dolores Hidalgo Cuna de la Independencia Nacional, Mexico
Dolores Hidalgo Cuna de la Independencia Nacional, Mexico

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Garcia-Ortiz L.,Laboratorio Of Medicina Genomica | Gutierrez-Salinas J.,Laboratorio Of Bioquimica Y Medicina Experimental | Galaviz-Hernandez C.,Centro Interdisciplinario Of Investigacion Para El Desarrollo Integral Regional | Chima-Galan M.C.,Laboratorio Of Medicina Genomica | And 3 more authors.
Ginecologia y Obstetricia de Mexico | Year: 2011

Background: The preeclampsia is a multisystemic syndrome that occupied the first cause of maternal and fetal mortality around the world. Epidemiologic studies shown both mother and father contribute at the same risk for preeclampsia. Objective: To determinate if there is an association between preeclampsia and paternal age. Material and method: Preeclampsia-eclampsia patients and couples were analyzed in agree to "National High Blood Pressure Education Program Working Group" classification, and a control group constituted by normal pregnant women and couples was included. Results: There were 27 cases with mild preeclampsia and her couples, 13 cases with severe preeclampsia and her couples and 40 controls conformed by normal pregnant women and her couples. The statistical analysis of variance of the ages shown that men from preeclamptic group had a greater variance in contrast with man of control group (p < 0.001; valor of F = 5.084). Conclusions: Although is not clear how paternal age interview in preeclampsia risk, the interaction between paternal-maternal imprinting and spermatic senescence, followed by shortened telomeres of chromosome, could be produce the inactivity of a whole network of signals implicated in disease aetiology.


Juliano C.N.,Programa de Pos Graduacao em Medicina | Juliano C.N.,Centro Integrado Of Patologia | Izetti P.,Programa de Pos Graduacao em Genetica e Biologia Molecular | Izetti P.,Laboratorio Of Medicina Genomica | And 9 more authors.
Applied Immunohistochemistry and Molecular Morphology | Year: 2016

Background/Objectives: Epigenetic deregulation may be involved in tumor cell biology, including differentiation, tumor progression, and cell death, and histone acetylation is a major regulatory mechanism of gene transcription. Patterns of global histone modifications have been recently suggested as outcome predictors in cancer patients, but few studies have been conducted on pancreatic ductal adenocarcinomas (PDACs). This study was designed to investigate the predictive value of histone acetylation modifications on PDAC. Materials and Methods: A retrospective clinicopathologic analysis was undertaken in 119 patients diagnosed with PDAC between 2005 and 2011, and immunohistochemistry performed with polyclonal antibodies against H4K12ac, H3K9ac, and H3K18ac. Positive nuclear staining for each histone was measured as the intensity and expression, being classified into low-staining or high-staining groups. Results were analyzed in relation to patients' clinicopathologic parameters. Results: There was a positive relationship between tumor differentiation and H4K12ac high scores (P<0.05) and staining with the 3 markers correlated positively with tumor stage (P<0.01). Univariate analysis showed worse survival in patients with high detection levels of H4K12ac (P=0.038) and H3K18Ac (P=0.033). A backwards Cox proportional hazards model analysis revealed the independent prognostic effect of high H4K12ac and H3K18ac levels (hazard ratios of 1.6 and 1.7, respectively, P<0.05), especially for patients at early stages of disease. Conclusions: We propose that acetylation of H4K12 and H3K18 may be considered valuable prognostic factors for pancreatic cancer, although the mechanism involved needs further investigation. Increasing insights into histone acetylation modifications can ultimately generate new ideas for rational and molecularly based diagnostic and therapeutic approaches. © 2015 Wolters Kluwer Health, Inc.


PubMed | National Polytechnic Institute of Mexico, Subdireccion de Ensenanza y Capacitacion, Laboratorio Of Medicina Genomica, Servicio de Electromiografia y Distrofia Muscular and 2 more.
Type: Journal Article | Journal: Muscle & nerve | Year: 2016

In this study, we determined normal levels of dysferlin expression in CD14Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software.The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut-off points, which allowed definition of 4 disease classification groups in a simplified algorithm.The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54: 1064-1071, 2016.


Rodriguez R.,CINVESTAV | Hernandez-Hernandez O.,Laboratorio Of Medicina Genomica | Magana J.J.,Laboratorio Of Medicina Genomica | Gonzalez-Ramirez R.,Hospital General Dr Manuel Gea Gonzalez | And 2 more authors.
Molecular Biology Reports | Year: 2015

Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder caused by a triplet nucleotide repeat expansion in the 3′ untranslated region of the Dystrophia Myotonica-Protein Kinase (DMPK) gene. DMPK gene transcripts containing CUG expanded repeats accumulate in nuclear foci and ultimately cause altered splicing/gene expression of numerous secondary genes. The study of primary cell cultures derived from patients with DM1 has allowed the identification and further characterization of molecular mechanisms underlying the pathology in the natural context of the disease. In this study we show for the first time impaired nuclear structure in fibroblasts of DM1 patients. DM1-derived fibroblasts exhibited altered localization of the nuclear envelope (NE) proteins emerin and lamins A/C and B1 with concomitant increased size and altered shape of nuclei. Abnormal NE organization is more common in DM1 fibroblasts containing abundant nuclear foci, implying expression of the expanded RNA as determinant of nuclear defects. That transient expression of the DMPK 3′ UTR containing 960 CTG but not with the 3′ UTR lacking CTG repeats is sufficient to generate NE disruption in normal fibroblasts confirms the direct impact of mutant RNA on NE architecture. We also evidence nucleoli distortion in DM1 fibroblasts by immunostaining of the nucleolar protein fibrillarin, implying a broader effect of the mutant RNA on nuclear structure. In summary, these findings reveal that NE disruption, a hallmark of laminopathy disorders, is a novel characteristic of DM1. © 2014, Springer Science+Business Media Dordrecht.


Aguilar A.,National Polytechnic Institute of Mexico | Wagsta K.M.,Monash University | Suarez-Sanchez R.,Laboratorio Of Medicina Genomica | Zinker S.,National Polytechnic Institute of Mexico | And 2 more authors.
FASEB Journal | Year: 2015

Although α-dystrobrevin (DB) is assembled into the dystrophin-associated protein complex, which is central to cytoskeletal organization, it has also been found in the nucleus. Here we delineate the nuclear import pathway responsible for nuclear targeting of α-DB for the first time, together with the importance of nuclear α-DB in determining nuclear morphology. We map key residues of the nuclear localization signal of α-DB within the zinc finger domain (ZZ) using various truncated versions of the protein, and site-directed mutagenesis. Pulldown, immunoprecipitation, and AlphaScreen assays showed that the importin (IMP) a2/b1 heterodimer interacts with high affinity with the ZZ domain of α-DB. In vitro nuclear import assays using antibodies to specific importins, as well as in vivo studies using siRNA or a dominant negative importin construct, confirmed the key role of IMPα2/β1 in α-DB nuclear translocation. Knockdown of α-DB expression perturbed cell cycle progression in C2C12 myoblasts, with decreased accumulation of cells in S phase and, significantly, altered localization of lamins A/C, B1, and B2 with accompanying gross nuclear morphology defects. Because α-DB interacts specifically with lamin B1 in vivo and in vitro, nuclear α-DB would appear to play a key role in nuclear shape maintenance through association with the nuclear lamina. © FASEB.


Cortes H.,Laboratorio Of Medicina Genomica | Hernandez-Hernandez O.,Laboratorio Of Medicina Genomica | Bautista-Tirado T.,Laboratorio Of Medicina Genomica | Escobar-Cedillo R.E.,Servicio de Electrodiagnostico | And 2 more authors.
Revista de Neurologia | Year: 2014

Introduction. Charcot-Marie-Tooth disease (CMT) is a neuropathy that affects sensory and motor nerves. The most common CMT subtype is CMT1A due to a PMP22 duplication of a 1.5 Mb fragment on the 17p11.2-p12. The development of a specific molecular technique that detects the PMP22 duplication is necessary for the diagnosis of CMT1A. Aim. To establish a routinary test for detection of the PMP22 gene duplication in Mexican population and to estimate the CMT1A frequency in patients clinically diagnosed as CMT. Patients and methods. A cohort of 157 individuals clinically diagnosed as CMT were analyzed. The detection of the PMP22 gene duplication was performed using the comparative 2-ΔΔCT qPCR method. Results. The comparative 2-ΔΔCT method was sensitive and reliable for the detection of the PMP22 duplication. In order to validate the testing, data was compared with FISH results. Duplication of PMP22 was detected in 79 patients (50.3%). Although CMT1A frequency is different among populations, in Mexican patients it was similar with other populations such as United States, Australia, Finland, Sweden and Spain. Conclusions. The qPCR technique is an accurate and inexpensive method for the diagnosis of CMT1A. This method can be routinely used in México where CMT1A represents ≈ 50% of CMT cases. Molecular diagnosis of CMT1A is essential for the genetic counseling and treatment of patients. © 2014 Revista de Neurología.


Morales-Gonzalez J.A.,Autonomous University of the State of Hidalgo | Gutierrez-Salinas J.,Laboratorio Of Bioquimica Y Medicina Experimental | Garcia-Ortiz L.,Laboratorio Of Medicina Genomica | Chima-Galan M.D.C.,Laboratorio Of Medicina Genomica | And 4 more authors.
International Journal of Molecular Sciences | Year: 2010

Fluoride intoxication has been shown to produce diverse deleterious metabolic alterations within the cell. To determine the effects of sodium fluoride (NaF) treatment on malondialdehyde (MDA) levels and on the activity of antioxidant enzymes in rat erythrocytes, Male Wistar rats were treated with 50 ppm of NaF or were untreated as controls. Erythrocytes were obtained from rats sacrificed weekly for up to eight weeks and the concentration of MDA in erythrocyte membrane was determined. In addition, the activity of the enzymes superoxide, dismutase, catalase, and glutathione peroxidase were determined. Treatment with NaF produces an increase in the concentration of malondialdehyde in the erythrocyte membrane only after the eight weeks of treatment. On the other hand, antioxidant enzyme activity was observed to increase after the fourth week of NaF treatment. In conclusion, intake of NaF produces alterations in the erythrocyte of the male rat, which indicates induction of oxidative stress. © 2010 by the authors.


Suarez-Sanchez R.,CINVESTAV | Suarez-Sanchez R.,Laboratorio Of Medicina Genomica | Aguilar A.,CINVESTAV | Wagstaff K.M.,Monash University | And 8 more authors.
Biochimica et Biophysica Acta - Molecular Cell Research | Year: 2014

Even though the Duchenne muscular dystrophy (DMD) gene product Dystrophin Dp71d is involved in various key cellular processes through its role as a scaffold for structural and signalling proteins at the plasma membrane as well as the nuclear envelope, its subcellular trafficking is poorly understood. Here we map the nuclear import and export signals of Dp71d by truncation and point mutant analysis, showing for the first time that Dp71d shuttles between the nucleus and cytoplasm mediated by the conventional nuclear transporters, importin (IMP) α/β and the exportin CRM1. Binding was confirmed in cells using pull-downs, while in vitro binding assays showed direct, high affinity (apparent dissociation coefficient of c. 0.25. nM) binding of Dp71d to IMPα/β. Interestingly, treatment of cells with the microtubule depolymerizing reagent nocodazole or the dynein inhibitor EHNA both decreased Dp71d nuclear localization, implying that Dp71d nuclear import may be facilitated by microtubules and the motor protein dynein. The role of Dp71d in the nucleus appears to relate in part to interaction with the nuclear envelope protein emerin, and maintenance of the integrity of the nuclear architecture. The clear implication is that Dp71d's previously unrecognised nuclear transport properties likely contribute to various, important physiological roles. © 2014 Elsevier B.V.


PubMed | Laboratorio Of Medicina Genomica
Type: Comparative Study | Journal: Ginecologia y obstetricia de Mexico | Year: 2011

The preeclampsia is a multisystemic syndrome that occupied the first cause of maternal and fetal mortality around the world. Epidemiologic studies shown both mother and father contribute at the same risk for preeclampsia.To determinate if there is an association between preeclampsia and paternal age.Preeclampsia-eclampsia patients and couples were analyzed in agree to National High Blood Pressure Education Program Working Group classification, and a control group constituted by normal pregnant women and couples was included.There were 27 cases with mild preeclampsia and her couples, 13 cases with severe preeclampsia and her couples and 40 controls conformed by normal pregnant women and her couples. The statistical analysis of variance of the ages shown that men from preeclamptic group had a greater variance in contrast with man of control group (p < 0.001; valor of F = 5.084).Although is not clear how paternal age interview in preeclampsia risk, the interaction between paternal-maternal imprinting and spermatic senescence, followed by shortened telomeres of chromosome, could be produce the inactivity of a whole network of signals implicated in disease aetiology.

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