publication . Article . Other literature type . 2016

Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis

Jan Krayyem; Wajdi Amayreh; Saied A. Jaradat; Kefah Al-Qa'qa';
Open Access
  • Published: 01 Feb 2016 Journal: Meta Gene, volume 7, pages 90-94 (issn: 2214-5400, Copyright policy)
  • Publisher: Elsevier BV
Abstract
Highlights • LPIN1 mutations were cataloged in families with hereditary myoglobinuria. • A novel missense Gly799Arg mutation was identified. • Arg725His, the only other known missense mutation, was confirmed to be pathogenic. • Arg388X, a known nonsense mutation, was the most common among Arabic patients. • Patients exercise-intolerant between myoglobinuria episodes have a second mutation.
Subjects
free text keywords: Article, Lipin-1, C-LIP domain, Rhabdomyolysis, medicine.disease, medicine, Polymorphism (computer science), Myoglobinuria, Genetics, Dominance (genetics), Phosphatidate phosphatase, Gene, Missense mutation, Exon, Biology
30 references, page 1 of 2

Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P.. A method and server for predicting damaging missense mutations. Nat. Methods. 2010; 7: 248-249 [OpenAIRE] [PubMed]

Bergounioux, J., Brassier, A., Rambaud, C., Bustarret, O., Michot, C., Hubert, L.. Fatal rhabdomyolysis in 2 children with LPIN1 mutations. J. Pediatr.. 2012; 60: 1052-1054 [OpenAIRE] [PubMed]

Bosch, X., Poch, E., Grau, J.M.. Rhabdomyolysis and acute kidney injury. N. Engl. J. Med.. 2009; 361: 62-72 [OpenAIRE] [PubMed]

Burroughs, A.M., Allen, K.N., Dunaway-Mariano, D., Aravind, L.. Evolutionary genomics of the HAD superfamily: understanding the structural adaptations and catalytic diversity in a superfamily of phosphoesterases and allied enzymes. J. Mol. Biol.. 2006; 361: 1003-1034 [PubMed]

Cao, H., Hegele, R.A.. Identification of single-nucleotide polymorphisms in the human LPIN1 gene. J. Hum. Genet.. 2002; 47: 370-372 [OpenAIRE] [PubMed]

Chang, Y.C., Chang, L.Y., Chang, T.J., Jiang, Y.D., Lee, K.C., Kuo, S.S., Lee, W.J., Chuang, L.M.. The associations of LPIN1 gene expression in adipose tissue with metabolic phenotypes in the Chinese population. Obesity. 2010; 18: 7-12 [PubMed]

Donkor, J., Sariahmetoglu, M., Dewald, J., Brindley, D.N., Reue, K.. Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns. J. Biol. Chem.. 2007; 282: 3450-3457 [OpenAIRE] [PubMed]

Donkor, J., Zhang, P., Wong, S., O'Loughlin, L., Dewald, J., Kok, B.P.. A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J. Biol. Chem.. 2009; 284: 29968-29978 [OpenAIRE] [PubMed]

Fawcett, K.A., Grimsey, N., Loos, R.J., Wheeler, E., Daly, A., Soos, M.. Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. Diabetes. 2008; 57: 2527-2533 [OpenAIRE] [PubMed]

Finck, B.N., Gropler, M.C., Chen, Z., Leone, T.C., Croce, M.A., Harris, T.E.. Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway. Cell Metab.. 2006; 4: 199-210 [PubMed]

Hamel, Y., Mamoune, A., Mauvais, F.X., Habarou, F., Lallement, L., Romero, N.B.. Acute rhabdomyolysis and inflammation. J. Inherit. Metab. Dis.. 2015; 38: 621-628 [OpenAIRE] [PubMed]

Han, G.S., Carman, G.M.. Characterization of the human LPIN1-encoded phosphatidate phosphatase isoforms. J. Biol. Chem.. 2010; 285: 14628-14638 [OpenAIRE] [PubMed]

Han, G.S., Wu, W.I., Carman, G.M.. The Saccharomyces cerevisiae lipin homolog is a Mg2 + − dependent phosphatidate phosphatase enzyme. J. Biol. Chem.. 2006; 281: 9210-9218 [OpenAIRE] [PubMed]

Loos, R.J., Rankinen, T., Pérusse, L., Tremblay, A., Després, J.P., Bouchard, C.. Association of lipin 1 gene polymorphisms with measures of energy and glucose metabolism. Obesity. 2007; 15: 2723-2732 [PubMed]

López, J.R., Rojas, B., Gonzalez, M.A., Terzic, A.. Myoplasmic Ca2 + concentration during exertional rhabdomyolysis. Lancet. 1995; 345: 424-425 [PubMed]

30 references, page 1 of 2
Any information missing or wrong?Report an Issue