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Ph1 gene

Saoussen M'Dimegh, Cécile Aquaviva-Bourdain, Asma Omezzine, Ibtihel M'Barek, Geneviéve Souche, Dorsaf Zellama, Kamel Abidi, Abdelattif Achour, Tahar Gargah, Saoussen Abroug, Ali Bouslama
Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. PH1 shows considerable phenotypic and genotypic heterogeneity. The incidence and severity of PH1 varies in different geographic regions. DNA samples of the affected members from two unrelated Tunisian families were tested by amplifying and sequencing each of the AGXT exons and intron-exon junctions...
September 2016: Journal of Genetics
Saoussen M'dimegh, Asma Omezzine, Mériam Ben Hamida-Rebai, Cécile Aquaviva-Bourdain, Ibtihel M'barek, Wissal Sahtout, Dorsaf Zellama, Geneviéve Souche, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of kidney transplant loss in a young Tunisian individual. We present a young man with end-stage renal disease who received a kidney allograft and experienced early graft failure...
August 25, 2016: Transplant Immunology
Saoussen M'dimegh, Cécile Aquaviva-Bourdain, Asma Omezzine, Geneviéve Souche, Ibtihel M'barek, Kamel Abidi, Tahar Gargah, Saoussen Abroug, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. The aim of this study was to report three PH3 cases carrying mutations in HOGA1. MATERIALS AND METHODS: Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after sequencing of AGXT and GRHPR genes, which was negative...
August 26, 2016: Journal of Clinical Laboratory Analysis
Yanbang Li, Sofia Provenzano, Mattijs Bliek, Cornelis Spelt, Ingo Appelhagen, Laura Machado de Faria, Walter Verweij, Andrea Schubert, Martin Sagasser, Thorsten Seidel, Bernd Weisshaar, Ronald Koes, Francesca Quattrocchio
Petunia mutants (Petunia hybrida) with blue flowers defined a novel vacuolar proton pump consisting of two interacting P-ATPases, PH1 and PH5, that hyper-acidify the vacuoles of petal cells. PH5 is similar to plasma membrane H(+) P3A -ATPase, whereas PH1 is the only known eukaryoticP3B -ATPase. As there were no indications that this tonoplast pump is widespread in plants, we investigated the distribution and evolution of PH1 and PH5. We combined database mining and phylogenetic and synteny analyses of PH1- and PH5-like proteins from all kingdoms with functional analyses (mutant complementation and intracellular localization) of homologs from diverse angiosperms...
August 2016: New Phytologist
Alessandra Pelle, Alessandra Cuccurullo, Cecilia Mancini, Regina Sebastiano, Giovanni Stallone, Susanna Negrisolo, Elisa Benetti, Licia Peruzzi, Michele Petrarulo, Mario De Marchi, Martino Marangella, Antonio Amoroso, Daniela Giachino, Giorgia Mandrile
BACKGROUND: Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type 3). In our Centre, at the end of 2014 molecular diagnosis of PH1 had been performed in 80 patients, while one patient received a PH2 diagnosis...
March 5, 2016: Journal of Nephrology
Chang Han, Peng Zhang, Peter R Ryan, Tina M Rathjen, ZeHong Yan, Emmanuel Delhaize
The aluminium tolerance of durum wheat was markedly enhanced by introgression of TaALMT1 and TaMATE1B from bread wheat. In contrast to bread wheat, TaMATE1B conferred greater aluminium tolerance than TaALMT1. Durum wheat (tetraploid AABB, Triticum turgidum) is a species that grows poorly on acid soils due to its sensitivity of Al(3+). By contrast, bread wheat (hexaploid AABBDD, T. aestivum) shows a large variation in Al(3+) tolerance which can be attributed to a major gene (TaALMT1) located on chromosome 4D as well as to other genes of minor effect such as TaMATE1B...
April 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Takeshi Ishibashi, Akinori Yaguchi, Kazuki Terada, Hitomi Ueno-Yokohata, Osamu Tomita, Kazutoshi Iijima, Kenichiro Kobayashi, Hajime Okita, Junya Fujimura, Kentaro Ohki, Toshiaki Shimizu, Nobutaka Kiyokawa
ATF7IP-PDGFRB is a novel PDGFRB-related fusion gene identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with a signature similar to that of Ph1 ALL, so-called Ph-like ALL. When we introduced ATF7IP-PDGFRB, murine Ba/F3 cells acquired the ability to proliferate in an interleukin (IL)-3-independent manner. On the contrary, the expression of wild-type PDGFRB is not sufficient to acquire the ability for IL-3-independent proliferation in Ba/F3 cells. The introduction of ATF7IP-PDGFRB also induces a typical gene expression profile for Ph1-ALL in Ba/F3 cells...
March 2016: Experimental Hematology
R Castello, R Borzone, S D'Aria, P Annunziata, P Piccolo, N Brunetti-Pierri
Primary hyperoxaluria type 1 (PH1) is an inborn error of liver metabolism due to deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes conversion of glyoxylate into glycine. AGT deficiency results in overproduction of oxalate that ultimately leads to end-stage renal disease and death. Organ transplantation as either preemptive liver transplantation or combined liver/kidney transplantation is the only available therapy to prevent disease progression. Gene therapy is an attractive option to provide an alternative treatment for PH1...
February 2016: Gene Therapy
Ugo Rovigatti
It is today indisputable that great progresses have been made in our molecular understanding of cancer cells, but an effective implementation of such knowledge into dramatic cancer-cures is still belated and yet desperately needed. This review gives a snapshot at where we stand today in this search for cancer understanding and definitive treatments, how far we have progressed and what are the major obstacles we will have to overcome both technologically and for disease modelling. In the first part, promising 3rd/4th Generation Sequencing Technologies will be summarized (particularly IonTorrent and OxfordNanopore technologies)...
November 2015: Critical Reviews in Oncology/hematology
Lamiae Boualla, Mariam Tajir, Najat Oulahiane, Jaber Lyahyai, Fatima Zahra Laarabi, Siham Chafai Elalaoui, Kenza Soulami, Hassan Ait Ouamar, Abdelaziz Sefiani
INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by deficiency of alanine glyoxylate aminotransferase, due to a defect in the AGXT gene. Several mutations in this gene have been reported and some of them have been observed in multiple populations. The aim of our study was to analyze the mutations causing PH1 in the Moroccan population and to estimate its prevalence in Morocco. METHODS: Molecular studies of 29 unrelated Moroccan patients with PH were performed by direct sequencing of all exons of the AGXT gene...
November 2015: Genetic Testing and Molecular Biomarkers
Oliver Clifford-Mobley, Laura Hewitt, Gill Rumsby
BACKGROUND: The primary hyperoxalurias are inherited disorders of glyoxylate metabolism, which cause over-production of oxalate leading to urolithiasis and subsequent renal failure. Other metabolites may be produced in excess in the different forms of PH: glycolate in PH1, glycerate in PH2 and 4-hydroxy-2-oxoglutarate and 2,4-dihydroxyglutarate in PH3. The aim of this study was to set up and validate a method for the simultaneous analysis of these metabolites in urine and to evaluate its use for preliminary identification of primary hyperoxaluria prior to definitive diagnosis by genetic testing...
July 2016: Annals of Clinical Biochemistry
Guo-Yong Chen, Si-Dong Wei, Zhong-Wu Zou, Gao-Feng Tang, Jian-Jun Sun, Shao-Tang Zhou
Primary hyperoxaluria type I (PH1), the most severe form of primary hyperoxalurias, is a liver disease of the metabolic defect in glyoxylate detoxification that can be corrected by liver transplantation. A 21-year-old man presented to our center after 4 months of regular hemodialysis for kidney failure caused by nephrolithiasis. A diagnosis of PH1 was confirmed by mutations of the AGXT gene. Left lateral sectionectomy of the native liver was performed; and auxiliary partial orthotopic liver transplantation (APOLT) and kidney transplantation were carried out synchronously using a living donor...
August 2015: Medicine (Baltimore)
Chetan Patokar, Adel Sepsi, Trude Schwarzacher, Masahiro Kishii, J S Heslop-Harrison
Thinopyrum bessarabicum (2n = 2x = 14, JJ or E(b)E(b)) is a valuable source of genes for bread wheat (2n = 6x = 42) improvement because of its salinity tolerance and disease resistance. Development of wheat-Th. bessarabicum translocation lines by backcrossing the amphiploid in the absence of the Ph1 gene (allowing intergenomic recombination) can assist its utilization in wheat improvement. In this study, six novel wheat-Th. bessarabicum translocation lines involving different chromosome segments (T4BS...
March 2016: Chromosoma
Elisa Oppici, Riccardo Montioli, Mirco Dindo, Laura Maccari, Valentina Porcari, Antonio Lorenzetto, Sara Chellini, Carla Borri Voltattorni, Barbara Cellini
The rare disease Primary Hyperoxaluria Type I (PH1) results from the deficit of liver peroxisomal alanine:glyoxylate aminotransferase (AGT), as a consequence of inherited mutations on the AGXT gene frequently leading to protein misfolding. Pharmacological chaperone (PC) therapy is a newly developed approach for misfolding diseases based on the use of small molecule ligands able to promote the correct folding of a mutant enzyme. In this report, we describe the interaction of amino-oxyacetic acid (AOA) with the recombinant purified form of two polymorphic species of AGT, AGT-Ma and AGT-Mi, and with three pathogenic variants bearing previously identified folding defects: G41R-Ma, G170R-Mi, and I244T-Mi...
October 16, 2015: ACS Chemical Biology
Riccardo Montioli, Elisa Oppici, Mirco Dindo, Alessandro Roncador, Giovanni Gotte, Barbara Cellini, Carla Borri Voltattorni
Liver peroxisomal alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5'-phosphate (PLP) enzyme, exists as two polymorphic forms, the major (AGT-Ma) and the minor (AGT-Mi) haplotype. Deficit of AGT causes Primary Hyperoxaluria Type 1 (PH1), an autosomal recessive rare disease. Although ~one-third of the 79 disease-causing missense mutations segregates on AGT-Mi, only few of them are well characterized. Here for the first time the molecular and cellular defects of G47R-Mi are reported. When expressed in Escherichia coli, the recombinant purified G47R-Mi variant exhibits only a 2...
October 2015: Biochimica et Biophysica Acta
Lise Allard, Pierre Cochat, Anne-Laure Leclerc, François Cachat, Christine Fichtner, Vandréa Carla De Souza, Clotilde Druck Garcia, Marie-Christine Camoin-Schweitzer, Marie-Alice Macher, Cécile Acquaviva-Bourdain, Justine Bacchetta
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical characteristics of PH3 patients have yet to be defined in sufficient detail. The aim of this study was to report our experience with PH3. METHODS: Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after the presence of mutations in the alanine-glyoxylate aminotransferase gene had been ruled out...
October 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Mohamed S Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman...
2015: International Journal of Nephrology
Marion B Coulter-Mackie
Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanine:glyoxylate aminotransferase (AGT). Genetic heterogeneity of the AGT gene cannot fully account for heterogeneity in the clinical phenotype. This study investigates a possible contribution to the clinical phenotype from SNPs in RET or PAX2 genes associated with reduced nephron number. The frequencies of these SNPs were compared in PH1-affected DNA samples and normal controls, and relative to age of onset in PH1-affected individuals...
April 2015: Biochemical Genetics
María-Dolores Rey, María C Calderón, Pilar Prieto
Intensive breeding has led to a narrowing in the genetic base of our major crops. In wheat, access to the extensive gene pool residing in its many and varied relatives (some cultivated, others wild) is hampered by the block on recombination imposed by the Ph1 (Pairing homoeologous 1) gene. Here, the ph1b mutant has been exploited to induced allosyndesis between wheat chromosomes and those of both Hordeum vulgare (cultivated barley) and H. chilense (a wild barley). A number of single chromosome Hordeum sp. substitution and addition lines in wheat were crossed and backcrossed to the ph1b mutant to produce plants in which pairing between the wheat and the non-wheat chromosomes was not suppressed by the presence of Ph1...
2015: Frontiers in Plant Science
Emma L Williams, Eleanor A L Bagg, Michael Mueller, Jana Vandrovcova, Timothy J Aitman, Gill Rumsby
Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic work-up. We reviewed testing outcomes of Sanger sequencing in 200 consecutive patient samples referred for analysis. In addition, the Illumina Truseq custom amplicon system was evaluated for paralleled next-generation sequencing (NGS) of AGXT,GRHPR, and HOGA1 in 90 known PH patients...
January 2015: Molecular Genetics & Genomic Medicine
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