Clinical and genetic characteristcs of hereditary motor and sensory neuropathy type IIA
- Authors: Dadali E.L.1, Schagina O.A.1, Fedotov V.P.2
-
Affiliations:
- Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow
- Voronezh Regional Clinical and Diagnostic Centre and Genetics Consulting Centre, Voronezh
- Issue: Vol 1, No 4 (2007)
- Pages: 10-14
- Section: Original articles
- URL: https://ogarev-online.ru/2075-5473/article/view/124367
- DOI: https://doi.org/10.17816/psaic422
- ID: 124367
Cite item
Full Text
Abstract
In this study, clinical manifestations of hereditary motor and sensory neuropathy type IIA (HMSN IIA, or Charcot–Marie–Tooth disease type 2A) were analyzed in 22 patients with the disease caused by different mutations of the MFN2 gene. Molecular genetic analysis showed that in the examined cohort of Russian families with axonal form of hereditary motor and sensory neuropathy, HMSN IIA accounted for 17% cases. Eighteen from 22 patients under observation were members of three large families with the disease segregating in two or more generations, which enabled us to determine the scope of clinical polymorphism of HMSN IIA, as well as to assess intra and interfamilial variability of clinical features and follow up the dynamics of clinical phenotype formation upon the disease progression.
About the authors
E. L. Dadali
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow
Author for correspondence.
Email: platonova@neurology.ru
Russian Federation
O. A. Schagina
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow
Email: platonova@neurology.ru
Russian Federation
V. P. Fedotov
Voronezh Regional Clinical and Diagnostic Centre and Genetics Consulting Centre, Voronezh
Email: platonova@neurology.ru
Russian Federation
References
- Бадалян Л.О., Скворцов И.А. Клиническая электронейромиография. М.: Медицина, 1986.
- Брам К.Б., Сузин С.А. Митохондрии в программированной гибели клетки: различные механизмы гибели. Биохимия 2005; 2: 284–293.
- Гехт Б.М., Ильина Н.А. Нервно-мышечные болезни. М.: Медицина, 1982.
- Гехт Б.М., Меркулова Д.М. Практические аспекты клиники и лечения полиневропатий. Неврол. журн. 1997; 2: 4–9.
- Гехт Б.М., Меркулова Д.М., Касаткина Л.Ф. Клиника, диагностика и лечение демиелинизирующих полиневропатий. Неврол. журн. 1996; 1: 12–17.
- Гринберг Д.А., Аминофф М.Д., Саймон Р.П. Клиническая неврология. М.: Мед-пресс-информ, 2004.
- Дадали Е.Л. Наследственные нервно-мышечные заболевания: диагностика и медико-генетическое консультирование. Дис. … докт. мед. наук. М., 1999.
- Дадали Е.Л., Угаров И.В., Шаркова И.В., Кириленко Н.Б. Проблемы классификации наследственных нейропатий. Мед. генетика 2003; 5: 194–200.
- Левин О.С. Полиневропатии. М.: МИА, 2005.
- Петрухин А.С. Неврология детского возраста. М.: Медицина, 2004.
- Поляков В.Ю., Файс Д. Как сливаются, фрагментируются и делятся митохондрии. Биохимия 2003; 8: 1026–1039.
- Скулачев В.П. Биоэнергетика. Мембранные преобразователи энергии. Биохимия мембран. М.: Высшая школа, 1989.
- Ченцов С.А. Введение в клеточную биологию. М.: Академкнига, 2004.
- Baloh R.H., Schmidt R.E., Pestronk A. et al. Altered axonal mitochondrial transport in the pathogenesis of Charcot–Marie–Tooth disease from mitofusin 2 mutations. J. Neurosci. 2007; 27: 422–430.
- Cho H.J., D. Sung B., Kim B. et al. Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot–Marie–Tooth neuropathy type 2. Clin. Genet. 2007; 71: 267–272.
- Chung K.W., Kim S.B., Park K.D. et al. Early onset severe and lateon-set mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129: 2103–2118.
- De Jonghe P., Timmerman V., Nelis E. et al. Charcot–Marie–Tooth disease and related peripheral neuropathies. J. Peripher. Nerv. Syst. 1997; 2: 370–387.
- Engelfried K., Vorgerd M., Hagedorn M. et al. Charcot–Marie–Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med. Genet. 2006; 7: 53.
- Harding A.E., Thomas P.K. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J. Med. Genet. 1980; 17: 329–336.
- Kijima K., Numakura C., Izumino H. et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A. Hum Genet. 2005; 116: 23–27.
- Kluck R.M., Bossy–Wetzel E., Green D.R., Newmeyer D.D. The release of cytochrome c from mitochondria: a primary site for Bcl-2 regulation of apoptosis. Science 1997; 275: 1132–1136.
- Lawson V.H., Graham B.V., Flanigan K.M. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005; 65: 197–204.
- Mozdy A.D., Shaw J.M. A fuzzy mitochondrial fusion apparatus comes into focus. Nat. Rev. Mol. Cell Biol. 2003; 4: 468–478.
- Sugioca R., Shimizu S., Tsujimoto Y. Fzo1, a protein involved in mitochondrial fusion, inhibits apoptosis. J. Biol. Chem. 2004; 279: 52726–52734.
- van der Heiden M.J., Thompson G.B. BCL-2 proteins: regulators of apoptosis or of mitochondrial homeostasis? Nat. Cell Biol. 1999; 1: 209–216.
- Zuchner S., De Jonghe P., Jordanova A. et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 2006; 59: 276–281.
- Zuchner S., Mersiyanova I.V., Muglia M. et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat. Genet. 2004; 36: 449–451.
- http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html. NEUROMUSCULAR DISEASE CENTER.
- http://www.molgen.ua.ac.be/CMTMutations/DataSource/MutByGene.cfm. CMT mutation data base.
Supplementary files
