LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure

JIMD Reports

Volumn 28, Issue , 2016, Pages 49-57

  Riley, Lisa G ^a,b   Rudinger Thirion, Joëlle ^c   Schmitz Abe, Klaus ^d,e   Thorburn, David R ^f   Davis, Ryan L ^g   Teo, Juliana ^a   Arbuckle, Susan ^a   Cooper, Sandra T ^a,b   Campagna, Dean R ^d   Frugier, Magali ^c   Markianos, Kyriacos ^d   Sue, Carolyn M ^g   Fleming, Mark D ^d   Christodoulou, John ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

LARS2 variant; Mitochondrial protein synthesis; Premature ovarian failure; Respiratory chain complex; Sideroblastic anemia

Indexed keywords

EID: 85003688920     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_515     Document Type: Chapter

References (29)

1. Belostotsky R, Ben-Shalom E, Rinat C et al (2011) Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet 88:193–200
2. Bottomley S, Fleming M (2014) Sideroblastic anemia diagnosis and management. Hematol Oncol Clin North Am 28:653–670
3. Chakraborty P, Schmitz-Abe K, Kennedy E et al (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodefi-ciency, fevers, and developmental delay (SIFD). Blood 124:2867–2871
4. Dallabona C, Diodato D, Kevelam S et al (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82:2063–2071
5. Diodato D, Ghezzi D, Tiranti V (2014) The mitochondrial aminoacyl tRNA synthetases: genes and syndromes. Int J Cell Biol 2014:1–11
6. Du X, Wang ED (2003) E292 is important for the aminoacylation activity of Escherichia coli leucyl-tRNA synthetase. J Protein Chem 22:71–76
7. Frazier A, Thorburn D (2012) Biochemical analyses of the electron transport chain complexes by spectrophotometry. Methods Mol Biol 837:49–61
8. Gotz A, Tyynismaa H, Euro L et al (2011) Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet 88:635–642
9. Konovalova S, Tyynismaa H (2013) Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206–211
10. Lue S, Kelley S (2005) An aminoacyl-tRNA synthetase with a defunct editing site. Biochemistry 44:3010–3016
11. McKenzie M, Lazarou M, Ryan M (2009) Analysis of respiratory chain complex assembly with radiolabeled nuclear-and mito-chondrial-encoded subunits. Methods Enzymol 456:321–339
12. Menezes M, Riley L, Christodoulou J (2014) Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine. Biochim Biophys Acta 1840:1368–1379
13. Leu . Biochemistry 40:5376–5381
14. Nakajima J, Eminoglu T, Vatansever G et al (2014) A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet 59:229–232
15. Pagliarini DJ, Calvo SE, Chang B et al (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134:112–123
16. Pagnamenta AT, Taanman J-W, Wilson CJ et al (2006) Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 21:2467–2473
17. Palencia A, Crépin T, Vu MT, Lincecum TL, Martinis SA, Cusack S (2012) Structural dynamics of the aminoacylation and proofreading functional cycle of bacterial leucyl-tRNA synthetase. Nat Struct Biol 19:677–684
18. Perret V, Garcia A, Grosjean H, Ebel J, Florentz C, Giege R (1990) Relaxation of transfer RNA specificity by removal of modified nucleotides. Nature 344:787–789
19. Pierce S, Chisholm K, Lynch E et al (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 108:6543–6548
20. Pierce S, Gersak K, Michaelson-Cohen R et al (2013) Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrrault syndrome. Am J Hum Genet 92:614–620
21. Riley L, Menezes M, Rudinger-Thirion J et al (2013) Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet J Rare Dis 8:193–203
22. Sarkar J, Poruri K, Bonieki M, McTavish K, Martinis S (2012) Yeast mitochondrial leucyl-tRNA synthetase CP1 domain has functionally diverged to accommodate RNA splicing at expense of hydrolytic editing. J Biol Chem 287:14722–14781
23. Schimmel P, Giegé R, Moras D, Yokoyama S (1993) An operational RNA code for amino acids and possible relationship to genetic code. Proc Natl Acad Sci U S A 90:8763–8768
24. Shahni R, Wedatilake Y, Cleary M, Lindley K, Sibson K, Rahman S (2013) A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. Am J Med Genet 161:2334–2338
25. Sohm B, Frugier M, Brule H, Olszak K, Przykorska A, Florentz C (2003) Towards understanding human mitochondrial leucine aminoacylation identity. J Mol Biol 328:995–1010
26. Starzyk R, Webster T, Schimmel P (1987) Evidence for dispensable sequences inserted into a nucleotide fold. Science 237:1614–1618
27. Steenweg M, Ghezzi D, Haack T et al (2013) Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations. Brain 135:1387–1394
28. Talim B, Pyle A, Griffin H et al (2013) Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain 136:1–3
29. Yao Y, Wang L, Wu X, Wang E (2003) Human mitochondrial leucyl-tRNA synthetase with high activity produced from Escherichia coli. Protein Expr Purif 30:112–116