SMN1 gene duplications are more frequent in patients with progressive muscular atrophy

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 14, Issue 5-6, 2013, Pages 457-462

  Kuźma Kozakiewicz, Magdalena ^a   Jedrzejowska, Maria ^b   Kaźmierczak, Beata ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Progressive muscular atrophy; SMN1; SMN2; Survival of motor neuron

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE DURATION; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPATHOLOGY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE MUSCULAR ATROPHY; PROTEIN FUNCTION; UNIVERSITY HOSPITAL;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PHENOTYPE; RETROSPECTIVE STUDIES; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84881348311     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.771367     Document Type: Article

References (35)

1. Lefebvre S ., Burglen L, Roboullet S, Clermont O, Burlet P, Viollet L, et al. Identifi cation and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 ; 80: 155-65
2. Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Mü h JP, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol. 2002 ; 51: 243-6
3. Corcia P, Camu W 3., Halimi J-M, Vourc'h P, Antar C, Vedrine S, et al. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology. 2006 ; 67 ; 1147-50
4. Turner B J, Parkinson N J, Davies K E, Talbot K. S urvival motor neuron defi ciency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiology of Disease. 2009 ; 34: 511-7
5. Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C. The importance of the SMN genes in the genetics of sporadic ALS. Amyotroph Lateral Scler. 2009 ; 10: 436-40
6. Blauw HM, Barnes CP, van Vught PWJ, van Rheenen, Verheul M, Cuppen E, et al. SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012; 78: 776-80
7. Brooks BB, Miller RG, Swash M, Munsat T. E l Escorial revisited: Revisited criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 ; 1: 293-9
8. Floyd A G, Yu QP, Piboolnurak P, Tang MX, Fang Y, Smith WA, et al. Transcranial magnetic stimulation in ALS: Utility of central motor conduction tests. Neurology. 2009 ; 72: 498-504
9. van der Graaff M M, Lavini C, Akkerman E M, Majoie C hB, Nederveen AJ, Zwinderman AH, et al. MR spectroscopy fi ndings in early stages of motor neuron disease. Am J Neuroradiol. 2010 ; 31: 1799-806
10. Lawyer T, Netsky MG. Amyotrophic lateral sclerosis: A clinicopathological study of 50 cases. Arch Neurol Psychiat. 1953 ; 69: 171-92
11. Ince P G, Evans J, Knopp M, Forster G, Hamdalla H H, Wharton SB, et al. Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. Neurology. 2003 ; 60: 1252-8
12. Kim W K, Liu X, Sandner J, Pasmantier M, Andrews J, Rowland LP, et al. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology. 2009 ; 73: 1686-92
13. Moulard B, Salachas F, Chassande B, Briolotti V, Meininger V, Malafosse A, et al. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol. 1998 ; 43: 640-4
14. Kim J, Lee S-G, Choi Y-C, Kang S-W, Lee J-B, Choi J-R, et al. Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Ann Clin Lab Sci. 2010 ; 40: 368-74
15. Miller S A, Dykes D D, Polesky H F. A simple salting out procedure for extracting DNA from human nucleated cells. Nuclei Acids Res. 1988; 16: 1215
16. J ȩdrzejowska M, Borkowska J, Zimowski J, Kostera-P ruszczyk A, Milewski M, Jurek M, et al. Unaffected patients with a homozygous absence of the SMN1 gene. Europ J Hum Genet. 2008 ; 16: 930-4
17. J ȩdrzejowska M, Milewski M, Zimowiski J, Zagozdzon P, Kostera-Pruszczyk A, Borkowska J, et al. Incidence of spinal muscular atrophy in Poland-more frequent than predicted? Neuroepidemiology. 2010 ; 34: 152-7
18. Kuz ́ ma M, Jamrozik Z, Baran ́ czyk-Kuz ́ ma A. A ctivity and expression of glutatione S-transferase pi in patients with amyotrophic lateral sclerosis. Clin Chim Acta. 2006 ; 364: 217-21
19. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970 ; 227: 680-5
20. Usarek E, Gajewska B, Ka ź mierczak B, Ku ma M, Dziewulska D, Bara ń czyk-Ku ź ma A. A study of glutatione S-transferase pi expression in central nervous system of subjects with amyotrophic lateral sclerosis using RNA extraction from formalin-fi xed, paraffi n-embedded material. Neurochem Res. 2005 ; 30: 1003-7
21. van den Berg-Vos R M, Visser J, Franssen H, de Visser M, de Jong JM, Kalmijn S, et al. Sporadic lower motor neuron disease with adult onset: Classifi cation of subtypes. Brain. 2003 ; 126: 1036-47
22. Roche JC, Rojas-Garcia R, Scott KM, Scotton W, Ellis CE, Burman R, et al. A proposed staging system for amyotrophic lateral sclerosis. Brain. 2012 ; 135: 847-52
23. Norris F H. A dult progressive muscular atrophy and hereditary spinal muscular atrophies. In: Vinken PJ, Bruyn GW, Klawans HL, de Jong JMBV, editors. Handbook of Clinical Neurology: Diseases of the Motor System. Amsterdam: North-Holland Publishing Company; 1991. pp 13-34
24. de Carvalho M, Scotto M, Swash M. C linical patterns in progressive muscular atrophy (PMA): A prospective study. Amyotroph Lateral Scler. 2007 ; 8: 296-9
25. Czaplinski A, Yen AA, Appel S H. Amyotrophic lateral sclerosis: Early predictors of prolonged survival. J Neurol. 2006 ; 253: 1428-36
26. Parboosingh J S, Meininger V, McKenna-Yasek D, Brown RH Jr, Rouleau GA. Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis. Arch Neurol. 1999 ; 56: 710-2
27. Gamez J, Barcelo MJ, Munoz X, Carmona F, Cusc ó I, Baiget M, et al. Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology. 2002 ; 59: 1456-60
28. Veldink J H, Kalmijn S, van der Hout AH, Lemmink H H, Groeneveld GJ, Lummen C, et al. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology. 2005 ; 65: 820-5
29. Hauke J, Riessland M, Lunke S, Eyü poglu IY, Bl ü mcke I, El-Osta A, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet. 2009 ; 18: 304-17
30. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997 ; 6: 1205-14
31. Milewski M, Jȩdrzejowska M, Jurek M, Sielska D, Borkowska J, Hausmanowa-Petrusewicz I. The relationship between the SMN protein expression level in fi broblasts and the clinical phenotype of SMA patients. EHGS Conference Praha 2005; P0854
32. Gu W, Lupski J.R. C NV and nervous system diseases: What' s new? Cytogenet Genome Res. 2008 ; 123: 54-64
33. Shi J, Zhang T, Zhou Ch, Chohan M O, Gu X, Wegiel J, et a l. Increased dosage of Dyrk1A alters alternative splicing factor (ASF). Regulated alternative splicing of Tau in Down syndrome. J Biol Chem. 2008 ; 283: 28660-9
34. Chari A, Pakina E, Fischer U. The role of RNP biogenesis in spinal muscular atrophy. Curr Opin Cell Biol. 2009 ; 21: 387-93
35. Lorson ChL, Rindt H, Shababi M. S pinal muscular atrophy: Mechanism and therapeutic strategies. Hum Mol Genet. 2010 ; 19: 111-8