LITAF and TNF alpha genes sequence variants in the patients with Charcot-Marie-Tooth disease

• Autorzy: Sinkiewicz-Darol E. , Potulska-Chromik A. , Kostera-Pruszczyk A. , Kabzinska D. , Kochanski A.
• Języki publikacji: EN

Abstrakty

EN

Recently it has been reported that Charcot-Marie-Tooth disease may coexist with chronic inflammatory neuropathy and central demyelination. There is a question, whether CMT and inflammatory disease detected in one family share a common pathogenesis or result from the random coincidence of two disorders. There is a possibility that mutations/sequence variants in the gene coding for immune response mediators (LITAF, TNF alpha) may modify the CMT phenotype. To test this hypothesis, we have sequenced the coding sequence of LITAF gene and the promoter sequence of TNF alpha gene in two families with Charcot-Marie-Tooth disease coexisting with chronic inflammatory demyelinating polyneuropathy (CIDP) and primary progressive multiple sclerosis (PPMS). The genetic analysis has revealed three sequence variants: c.274A>G (Ile92Val) and in c.334G>A (Gly112Ser) in the LITAF gene and one SNP -308G>A in the promoter region of TNF alpha gene. The sequence variants c.334G>A (Gly112Ser) in the LITAF gene and -308G>A in the TNF alpha gene were detected in family with Charcot-Marie-Tooth type 1C and primary progressive multiple sclerosis (PPMS). The sequence variants c.274A>G (Ile92Val) in the LITAF gene and -308G>A in the TNF alpha gene were detected in family with Charcot-Marie-Tooth type 1A and chronic inflammatory polyradiculoneuropathy (CIDP). In agreement with previously published data we suggest that the sequence variants in the genes coding for inflammatory mediators may contribute to the clinical variability of CMT.

• Wydawca: -
• Czasopismo: Acta Neurobiologiae Experimentalis
• Rocznik: 2011
• Tom: 71
• Numer: 1
• Opis fizyczny: p.158

Twórcy

autor

Sinkiewicz-Darol E.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

autor

Potulska-Chromik A.

• Department of Neurology, Medical University of Warsaw, Warsaw, Poland

autor

Kostera-Pruszczyk A.

• Department of Neurology, Medical University of Warsaw, Warsaw, Poland

autor

Kabzinska D.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

autor

Kochanski A.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland