Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease

• Autorzy: Nowakowski A. , Kochanski A.
• Języki publikacji: EN

Abstrakty

EN

The myelin protein zero gene (MPZ) coding for the most abundant protein of the pe­ripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we aimed to analyze the coding and promoter sequences of the MPZ gene in a group of patients with three CMT phenotypes i.e.: CMT1, CMT2 and CHN. Over 500 PCR products were screened by single strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA). In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. In agreement with previously reported studies we con­clude that MPZ gene screening should be performed for wide phenotype spectrum of CMT.

Słowa kluczowe

EN

peripheral nerve myelin; Charcot-Marie-Tooth disease; human disease; gene; patient; gene coding; myelin protein zero gene; heteroduplex analysis

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2004
• Tom: 51
• Numer: 1
• Opis fizyczny: p.273-280,fig.,ref.

Twórcy

autor

Nowakowski A.

• Polish Academy of Sciences, A.Pawinskiego 5, 02-106 Warsaw, Poland

autor

Kochanski A.

Bibliografia

• Bird TD, Ott J, Giblett ER. (1982) Am J Hum Genet.; 34: 388-94.
• Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martinez F, Millan JM, Arpa J, Vilchez JJ, Prieto F, Van Broeckhoven C, Palau F. (1997) Hum Genet.; 99: 746-54.
• Odelberg SJ, Disteche CM, Bird TD. (1993) Cell.; 72: 143-51.
• Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GJ. (1990) Nature.; 344: 871-2.
• Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneal PM, Chance PF. (1993) Nat Genet.; 5: 31-4.
• Kochanski A, Kabzinska D, Nowakowski A, Drac H, Hausmanowa-Petrusewicz I. (2004) JPeripher Nerv Syst.; 9: 1-2.
• Kochanski A, Drac H, Kabzinska D, Ryniewicz B, Rowinska-Marcinska K, Nowakowski A, Hausmanowa-Petrusewicz I. (2004) Neurology.; in press.
• Lemke G, Lamar E, Patterson J. (1988) Neuron.; 1: 73-83.
• Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin J, Van Broeckhoven C. (1994) Hum Genet.; 94: 653-7.
• Nelis E, Warner L, Vriendt E, Chance Ph, Lupski J, Van Broeckhoven C. (1996) Eur J Hum Genet.; 4: 329-33.
• Marrosu HG, Vacargio S, Marrosu CS, Vanelli A, Cianchetti C, Muntoni F. (1999) Neurology.; 52: 1110-1.
• Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedorov VP, Nelis E, Lofgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV. (2000) Hum Mutat.; 15: 340-7.
• Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. (1996) Hum Mutat.; 7: 36-43.
• Raemaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, de Visser M, Bolhuis PA, Van Broeckhoven C. (1991) Neuromusc Disord.; 1: 93-7.
• Warner L, Hilz M, Appel S, Killian JM, Kolodny EH, Karpati G, Carpenter S, Watters G, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski J. (1996) Neuron.; 17: 451-60.
• White MB, Carvalho M, Derse D, O'Brian SJ, Dean M. (1992) Genomics.; 12: 301-6.
• Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. (2003) Ann Neurol.; 54: 398-402.
• Young P, Stogbauer F, Wiebusch H, Lofgren A, Timmerman V, Broeckhoven C, Ringelstein E, Assmann G, Funke H. (1998) Neurology.; 50: 760-3.
• Electronic-Database Information: Inherited Peripheral Neuropathies Mutation Database http://molgen- www.uia.ac.be/CMTMutations