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Neurofilament M gene in a French-Canadian Population with Parkinson’s Disease

Published online by Cambridge University Press:  02 December 2014

F. Han ,
D.E. Bulman ,
M. Panisset  and
D.A. Grimes
F. Han
Affiliation:
Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
D.E. Bulman
Affiliation:
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, and the Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
M. Panisset
Affiliation:
Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Canada
D.A. Grimes
Affiliation:
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, and the Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
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Abstract

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Background:

Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson’s disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson’s disease and of similar ethnic background have been screened for this mutation.

Methods:

We screened 102 French-Canadian patients with definite PD and 45 French-Canadian controls for this substitution in the NF-M gene using a PCR-restriction enzyme digestion method.

Results:

None of the patients or controls carried this mutation.

Conclusion:

Our results would indicate that this mutation is not common even in a PD population of similar ethnic background and suggest this change represents a rare variant. However, these results do not exclude the possibility that other mutations in this gene could be present.

Résumé:

RÉSUMÉ:Introduction:

Une mutation impliquant une substitution d’une seule paire de bases (G1747A) dans le gène du neurofilament M (NF–M) a été rapportée récemment chez un patient Canadien–français atteint de la maladie de Parkinson (MP). Trois membres de sa fratrie qui ne sont pas atteints de la maladie sont hétérozygotes pour la mutation NF–M Gly336Ser, mais jusqu’à maintenant on n’a trouvé une telle mutation chez aucun autre individu atteint de la MP.

Méthodes:

Nous avons recherché cette substitution dans le gène NF–M au moyen de la méthode par technique PCR et digestion enzymatique par une enzyme de restriction chez 102 patients canadiens–français atteints de MP certaine et 45 témoins canadiens–français.

Résultats:

Aucun des patients ou des témoins n’était porteur de cette mutation.

Conclusion:

Selon nos résultats, cette mutation n’est pas fréquente, même chez des patients atteints de la MP et ayant la même origine ethnique. Il s’agit donc d’une variante rare. Cependant la présence d’autres mutations dans ce gène n’est pas exclue.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 32 , Issue 1 , February 2005 , pp. 68 - 70
Copyright
Copyright © The Canadian Journal of Neurological 2014

References

1. Lai, BC, Schulzer, M, Marion, S, et al. The prevalence of Parkinson'sdisease in British Columbia, Canada, estimated by using drug tracer methodology. Parkinsonism Relat Disord 2003;9(4):233–238.Google Scholar
2. Gelb, DJ, Oliver, E, Gilman, S. Diagnostic criteria for Parkinsondisease. Arch Neurol 1999;56(1):33–39.CrossRefGoogle Scholar
3. Greenamyre, JT, Hastings, TG. Biomedicine. Parkinson’s – divergentcauses, convergent mechanisms. Science 2004;304(5674):1120–1122.Google Scholar
4. Le, WD, Xu, P, Jankovic, J, et al. Mutations in NR4A2 associatedwith familial Parkinson disease. Nat Genet 2003;33(1):85–89.Google Scholar
5. Bonifati, V, Rizzu, P, van Baren, MJ, et al. Mutations in the DJ-1 geneassociated with autosomal recessive early-onset parkinsonism. Science 2003;299(5604):256–259.CrossRefGoogle Scholar
6. Valente, EM, Abou-Sleiman, PM, Caputo, V, et al. Hereditary early-onset Parkinson’s disease caused by mutations in PINK1. Science 2004;304(5674):1158–1160.Google Scholar
7. Grimes, DA, Bulman, DE. Parkinson’s genetics – creating excitingnew insights. Parkinsonism Relat Disord 2002;8(6):459–464.Google Scholar
8. Lavedan, C, Buchholtz, S, Nussbaum, RL, et al. A mutation in thehuman neurofilament M gene in Parkinson’s disease that suggests a role for the cytoskeleton in neuronal degeneration. Neurosci Lett 2002;322(1):57–61.Google Scholar
9. Hughes, AJ, Daniel, SE, Lees, AJ. Improved accuracy of clinicaldiagnosis of Lewy body Parkinson’s disease. Neurology 2001;57(8):1497–1499.Google Scholar
10. Fuchs, E, Cleveland, DW. A structural scaffolding of intermediatefilaments in health and disease. Science 1998;279(5350):514–519.Google Scholar
11. Xu, Z, Cork, LC, Griffin, JW, Cleveland, DW. Increased expression ofneurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 1993;73(1):23–33.Google Scholar
12. Ohara, O, Gahara, Y, Miyake, T, et al. Neurofilament deficiency inquail caused by nonsense mutation in neurofilament-L gene. J Cell Biol 1993;121(2):387–395.Google Scholar
13. Georgiou, DM, Zidar, J, Korosec, M, et al. A novel NF-L mutation Pro 22 Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002;4(2):93–96.Google Scholar
14. Mersiyanova, IV, Perepelov, AV Polyakov, AV et al. Anew variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000;67(1):37–46.Google Scholar
15. Al-Chalabi, A, Andersen, PM, Nilsson, P, et al. Deletions of the heavyneurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999;8(2):157–164.Google Scholar
16. Tomkins, J, Usher, P, Slade, JY, et al. Novel insertion in the KSPregion of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport 1998;9(17):3967–3970.Google Scholar
17. Trojanowski, JQ, Lee, VM. Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: implications for the pathogenesis of Parkinson disease and Lewy body dementia. Arch Neurol 1998;55(2):151–152.Google Scholar
18. Tu, PH, Raju, P, Robinson, KA, et al. Transgenic mice carrying ahuman mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. Proc Natl Acad Sci USA 1996;93(7):3155–3160.Google Scholar
19. Scott, WK, Nance, MA, Watts, RL, et al. Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA 2001;286(18):2239-2244.Google Scholar
20. Kruger, R, Fischer, C, Schulte, T, et al. Mutation analysis of theneurofilament M gene in Parkinson’s disease. Neurosci Lett 2003;351(2):125–129.Google Scholar