A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia

Human Mutation

Volumn 37, Issue 2, 2016, Pages 165-169

  Yang, Ying ^a,b   Liu, Wei ^c   Fang, Zhipeng ^d   Shi, Juan ^b   Che, Fengyu ^b   He, Chunxia ^a,b   Yao, Libo ^a   Wang, Enduo ^d   Wu, Yuanming ^a,b  

^a Department of Biochemistry and Molecular Biology ^*  (China)

^b FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^c FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^d INSTITUTE OF BIOCHEMISTRY AND CELL BIOLOGY   (China)

Author keywords

FARS2; Hereditary spastic paraplegia; Neurodegenerative disorder; Purkinje cells

Indexed keywords

AMINO ACID; FARS2 PROTEIN; GENOMIC DNA; PHENYLALANINE TRANSFER RNA LIGASE; UNCLASSIFIED DRUG; FARS2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

AMINOACYLATION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CEREBELLUM; CONSANGUINITY; CONTROLLED STUDY; ENZYME ACTIVITY; GENE IDENTIFICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PURKINJE CELL; RAT; SANGER SEQUENCING; SPASTIC PARAPLEGIA; WHOLE EXOME SEQUENCING; ANIMAL; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; EXOME; FEMALE; GENE EXPRESSION; GENETICS; HOMOZYGOTE; MALE; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT;

ANIMALS; BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENYLALANINE-TRNA LIGASE; PURKINJE CELLS; RATS; SEQUENCE ALIGNMENT; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84951103577     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22930     Document Type: Article

References (23)

1. Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZMA. 2014. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta 1842:56-64.
2. Aulitzky A, Friedrich K, Glaser D, Gastl R, Kubisch C, Ludolph AC, Volk AE. 2014. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. J Neurol Sci 347(1-2):352-355.
3. Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y. 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.
4. Blackstone C, O’Kane CJ, Reid E. 2011. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 12:31-42.
5. Diodato D, Ghezzi D, Tiranti V. 2014. The Mitochondrial aminoacyl tRNA synthetases: genes and syndromes. Int J Cell Biol 2014:787956.
6. Elo JM, Yadavalli SS, Euro L, Isohanni P, Gotz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, et al. 2012. Mitochon drialphenylalanyl- tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet 21:4521-4529.
7. Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Lebrigio RFA, Gaussen M, et al. 2014. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet 94:268-277.
8. Fink JK. 2013. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126:307-328.
9. Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Ilina EI, Karle, K, et al. 2013. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. PLoS Genet 9:e1003988.
10. Klipcan L, Levin I, Kessler N, Moor N, Finarov I, Safro M. 2008.ThetRNA-inducedcon- formational activation of human mitochondrial phenylalanyl-tRNA synthetase. Structure 16:1095-1104.
11. Konovalova S, Tyynismaa H. 2013. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206-211.
12. Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL. 2006. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 443(7107):50-55.
13. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. 2014. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518-539.
14. Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G. 2009. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinjecelldarkde generation. JNeurosci 29:9244-9254.
15. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, et al. 2014. Exomese quencing linkscorticospinalmotorneurondiseasetocommonneurodegenerativedisorders. Science 343(6170):506-511.
16. Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M, Christodoulou J. 2010. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and siderob lasticanemia-MLASA syndrome. Am J Hum Genet 87:52-59.
17. Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoise B, et al. 2015. Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia. JAMA Neurol 72:561-570.
18. Ruano L, Melo C, Silva MC, Coutinho P. 2014. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174-183.
19. Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F. 2010. Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC Neurosci 11:55.
20. Salinas S, Proukakis C, Crosby A, Warner TT. 2008. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127-1138.
21. Seidel K, De Vos R, Derksen L, Bauer P, Riess O, den Dunnen W, Deller T, Hageman G, Rub U. 2009. Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP). Ann Anat 191:203-211.
22. Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, et al. 2012. Leukoen-cephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations. Brain 135(Pt 5):1387-1394.
23. Vernon HJ, McClellan R, Batista DA, Naidu S. 2015. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. Am J Med Genet A 167A:1147-1151.