Display options
Cite
Jaradat SA, Amayreh W, Al-Qa'qa' K, et al. Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis. Meta Gene. 2015;7:90-4doi: 10.1016/j.mgene.2015.12.003.
Jaradat, S. A., Amayreh, W., Al-Qa'qa', K., & Krayyem, J. (2016). Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis. Meta gene, 790-4. https://doi.org/10.1016/j.mgene.2015.12.003
Jaradat, Saied A, et al. "Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis." Meta gene vol. 7 (2016): 90-4. doi: https://doi.org/10.1016/j.mgene.2015.12.003
Jaradat SA, Amayreh W, Al-Qa'qa' K, Krayyem J. Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis. Meta Gene. 2015 Dec 22;7:90-4. doi: 10.1016/j.mgene.2015.12.003. eCollection 2016 Feb. PMID: 26909335; PMCID: PMC4733219.
Copy Download .nbib Format: NLM
Share it on

Meta Gene. 2015 Dec 22;7:90-4. doi: 10.1016/j.mgene.2015.12.003. eCollection 2016 Feb.

Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis.

Meta gene

Saied A Jaradat, Wajdi Amayreh, Kefah Al-Qa'qa', Jan Krayyem

Affiliations

  1. Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
  2. Department of Pediatrics, Metabolic Genetics Clinic, Queen Rania Al-Abdullah Children's Hospital, King Hussein Medical Centre, Amman 11855, Jordan.

PMID: 26909335 PMCID: PMC4733219 DOI: 10.1016/j.mgene.2015.12.003

Abstract

Recessive mutations in LPIN1, which encodes a phosphatidate phosphatase enzyme, are a frequent cause of severe rhabdomyolysis in childhood. Hence, we sequenced the 19 coding exons of the gene in eight patients with recurrent hereditary myoglobinuria from four unrelated families in Jordan. The long-term goal is to facilitate molecular genetic diagnosis without the need for invasive procedures such as muscle biopsies. Three different mutations were detected, including the novel missense mutation c.2395G>C (Gly799Arg), which was found in two families. The two other mutations, c.2174G>A (Arg725His) and c.1162C>T (Arg388X), have been previously identified, and were found to cosegregate with the disease phenotype in the other two families. Intriguingly, patients homozygous for Arg725His were also homozygous for the c.1828C>T (Pro610Ser) polymorphism, and were exercise-intolerant between myoglobinuria episodes. Notably, patients homozygous for Arg388X were also homozygous for the c.2250G>C silent variant (Gly750Gly). Taken together, the data provide family-based evidence linking hereditary myoglobinuria to pathogenic variations in the C-terminal lipin domain of the enzyme. This finding highlights the functional significance of this domain in the absence of structural information. This is the first analysis of LPIN1 in myoglobinuria patients of Jordanian origin, and the fourth such analysis worldwide.

Keywords: C-LIP domain; Lipin-1; myoglobinuria

References

  1. J Biol Chem. 2007 Feb 9;282(6):3450-7 - PubMed
  2. Am J Hum Genet. 2008 Oct;83(4):489-94 - PubMed
  3. Diabet Med. 2013 Jan;30(1):118-22 - PubMed
  4. Neuromuscul Disord. 2014 Aug;24(8):651-9 - PubMed
  5. Am J Physiol Endocrinol Metab. 2009 Jun;296(6):E1195-209 - PubMed
  6. Hum Mutat. 2010 Jul;31(7):E1564-73 - PubMed
  7. Cell Metab. 2006 Sep;4(3):199-210 - PubMed
  8. Obesity (Silver Spring). 2007 Nov;15(11):2723-32 - PubMed
  9. J Pediatr. 2012 Jun;160(6):1052-4 - PubMed
  10. Diabetes. 2008 Sep;57(9):2527-33 - PubMed
  11. J Mol Biol. 2006 Sep 1;361(5):1003-34 - PubMed
  12. FEBS J. 2013 Jan;280(2):549-71 - PubMed
  13. Diabetes. 2008 Jan;57(1):209-17 - PubMed
  14. N Engl J Med. 2009 Jul 2;361(1):62-72 - PubMed
  15. J Biol Chem. 2011 Jul 29;286(30):26781-93 - PubMed
  16. J Biol Chem. 2005 Sep 23;280(38):32883-9 - PubMed
  17. J Inherit Metab Dis. 2012 Nov;35(6):1119-28 - PubMed
  18. Nat Methods. 2010 Apr;7(4):248-9 - PubMed
  19. J Biol Chem. 2006 Apr 7;281(14):9210-8 - PubMed
  20. Obesity (Silver Spring). 2010 Jan;18(1):7-12 - PubMed
  21. J Biol Chem. 2010 May 7;285(19):14628-38 - PubMed
  22. J Hum Genet. 2002;47(7):370-2 - PubMed
  23. Medicine (Baltimore). 2005 Nov;84(6):377-85 - PubMed
  24. Lancet. 1995 Feb 18;345(8947):424-5 - PubMed
  25. Nat Genet. 2001 Jan;27(1):121-4 - PubMed
  26. J Inherit Metab Dis. 2015 Jul;38(4):621-8 - PubMed
  27. Hum Mol Genet. 2006 Feb 1;15(3):377-86 - PubMed
  28. Cell Metab. 2014 Aug 5;20(2):267-79 - PubMed
  29. Biochim Biophys Acta. 2013 Dec;1832(12):2103-14 - PubMed
  30. J Biol Chem. 2009 Oct 23;284(43):29968-78 - PubMed

Publication Types