Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in sangesar population of Northern Iran

Clinical Genetics

Volumn 84, Issue 6, 2013, Pages 589-592

  Khademian, H ^a,b   Mehravar, E ^b   Urtizberea, J A ^c   Sagoo, S ^a   Sandoval, L ^a,e   Carbajo, R ^a,d   Darvish, B ^a   Valles Ayoub, Y ^a   Darvish, D ^a  

^a HIBM Research Group   (United States)

^b Sangesar Charity Organization for HIBM   (Iran)

^c Hôpital marin   (France)

^d CALIFORNIA STATE UNIVERSITY   (United States)

^e Los Angeles Mission College   (United States)

Author keywords

Disability; Distal myopathy with rimmed vacuoles; Dystrophy; Epidemiology; IBM2; Muscle; Nonaka myopathy; Orphan disease; Persia; Persian; Quadriceps sparing myopathy; Rare disease; Sialic

Indexed keywords

DNA; ENZYME; SIALIC ACID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GNE GENE; HEREDITARY INCLUSION BODY MYOPATHY; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; IRAN; JEW; MAJOR CLINICAL STUDY; MALE; MIDDLE EAST; MOSLEM; MYOPATHY; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE;

DISABILITY; DISTAL MYOPATHY WITH RIMMED VACUOLES; DYSTROPHY; EPIDEMIOLOGY; IBM2; MUSCLE; NONAKA MYOPATHY; ORPHAN DISEASE; PERSIA; PERSIAN; QUADRICEPS SPARING MYOPATHY; RARE DISEASE; SIALIC;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DISTAL MYOPATHIES; FEMALE; GENOTYPE; GEOGRAPHY; HUMANS; INFANT; IRAN; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUTATION; PHENOTYPE; PREVALENCE; YOUNG ADULT;

EID: 84886799619     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12086     Document Type: Article

References (30)

1. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981: 51: 141-155.
2. Argov Z, Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps A unique disorder in Iranian Jews. J Neurol Sci 1984: 64: 33-43.
3. Eisenberg I, Avidan N, Potikha T et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001: 29: 83-87.
4. Ikeuchi T, Tsuji S. Distal myopathy with rimmed vacuoles (DMRV). Nippon Rinsho 1997: 55: 3195-3199.
5. Hinderlich S, Stäsche R, Zeitler R, Reutter W. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 1997: 272: 24313-24318.
6. Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science 1999: 284: 1372-1376.
7. Askanas V, Engel WK. Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 2002: 15: 525-531.
8. Tseng BP, Kitazawa M, LaFerla FM. Amyloid beta-peptide: the inside story. Curr Alzheimer Res 2004: 1: 231-239.
9. Kaback M, Lopatequi J, Portuges AR et al. Genetic screening in the Persian Jewish community: a pilot study. Genet Med 2010: 12: 628-633.
10. Arai A, Tanaka K, Ikeuchi T et al. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann Neurol 2002: 52: 516-519.
11. Nishino I, Noguchi S, Murayama K et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002: 59: 1689-1693.
12. D. Darvish, HRG WWW [Spectrum of IBM2 Mutations], (n.d.).
13. Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab 2002: 77: 252-256.
14. Fisher J, Towfighi J, Darvish D, Simmons Z. A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations. J Clin Neuromuscul Dis 2006: 7: 179-184.
15. Huizing M, Krasnewich DM. Hereditary inclusion body myopathy: a decade of progress. Biochim Biophys Acta 2009: 1792: 881-887.
16. Saechao C, Valles-Ayoub Y, Esfandiarifard S et al. Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers 2010: 14: 157-162.
17. Boyden SE, Duncan AR, Estrella EA et al. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet 2011: 12: 87.
18. Valles-Ayoub Y, Saechao C, Haghighatgoo A et al. Validation of GNE:pM712T identification by melting curve analysis. Genet Test 2008: 12: 101-109.
19. Momma K, Noguchi S, Hayashi YK et al. GP503 Genotype-phenotype correlation of DMRV/hIBM patient in Japan. Neuromuscul Disord 2009: 19: 568.
20. Galeano B, Klootwijk R, Manoli I et al. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 2007: 117: 1585-1594.
21. Nemunaitis G, Jay CM, Senzer N et al. Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex Human Gene Therapy 2011: 11: 1331-1341.
22. Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M et al. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery. Neuromuscular Disorders: NMD, 2012.
23. Malicdan MCV, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 2009: 15: 690-695.
24. Malicdan MCV, Noguchi S, Tokutomi T et al. Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy. J Biol Chem 2012: 287: 2689-2705.
25. Krause S, Schlotter-Weigel B, Walter MC et al. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord 2003: 13: 830-834.
26. Argov Z, Tiram E, Eisenberg I et al. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 1997: 41: 548-551.
27. Saito T, Yamaji A, Itoh T. A new isolation method of caseinoglycopeptide from sweet cheese whey. J Dairy Sci 1991: 74: 2831-2837.
28. Nakano T, Ozimek L. Determination of sialic acid by the thiobarbituric acid reaction in sweet whey and its fractions. J Agric Food Chem 1999: 47: 2613-2616.
29. Lacomba R, Salcedo J, Alegría A et al. Sialic acid (N-acetyl and N-glycolylneuraminic acid) and ganglioside in whey protein concentrates and infant formulae. Int Dairy J 2011: 21: 887-895.
30. Malicdan MCV, Noguchi S, Nishino I. A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review. Ther Adv Neurol Disord 2010: 3: 127-135.