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Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva, Elena; Melyanovskaya, Yuliya; Bulatenko, Nataliya; Davydenko, Ksenia; Filatova, Alexandra; Efremova, Anna; Skoblov, Mikhail; Bukharova, Tatiana; Sherman, Viktoriya; Voronkova, Anna; Zhekaite, Elena; Krasovskiy, Stanislav; Amelina, Elena; Petrova, Nika; Polyakov, Alexander; Adyan, Tagui; Starinova, Marina; Krasnova, Maria; Vasilyev, Andrey; Makhnach, Oleg; Zinchenko, Rena; Kutsev, Sergey; Gokdemir, Yasemin; Karadag, Bülent; Goldshtein, Dmitry.
Afiliación
  • Kondratyeva E; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Melyanovskaya Y; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Bulatenko N; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Davydenko K; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Filatova A; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Efremova A; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Skoblov M; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Bukharova T; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Sherman V; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Voronkova A; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Zhekaite E; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Krasovskiy S; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Amelina E; Pulmonology Scientific Research Institute, Federal Medical and Biological Agency of Russian Federation, Orekchovy Boulevard, 28, 115682 Moscow, Russia.
  • Petrova N; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Polyakov A; Pulmonology Scientific Research Institute, Federal Medical and Biological Agency of Russian Federation, Orekchovy Boulevard, 28, 115682 Moscow, Russia.
  • Adyan T; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Starinova M; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Krasnova M; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Vasilyev A; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Makhnach O; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Zinchenko R; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Kutsev S; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Gokdemir Y; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Karadag B; Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.
  • Goldshtein D; Division of Pediatric Pulmonology, Marmara University, 34722 Istanbul, Turkey.
Int J Mol Sci ; 24(7)2023 Mar 28.
Article en En | MEDLINE | ID: mdl-37047318
The pathogenic variant E92K (c.274G > A) of the CFTR gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We studied the effect of the E92K genetic variant on the CFTR function. The function of the CFTR channel was studied using the intestinal current measurements (ICM) method. The effects of CFTR modulators on the restoration of the CFTR function were studied in the model of intestinal organoids. To assess the effect of E92K on pre-mRNA splicing, the RT-PCR products obtained from patients' intestinal organoid cultures were analyzed. Patients with the genetic variant E92K are characterized by an older age of diagnosis compared to homozygotes F508del and a high frequency of pancreatic sufficiency. The results of the sweat test and the ICM method showed partial preservation of the function of the CFTR channel. Functional analysis of CFTR gene expression revealed a weak effect of the E92K variant on mRNA-CFTR splicing. Lumacaftor (VX-809) has been shown to restore CFTR function in an intestinal organoid model, which allows us to consider the E92K variant as a promising target for therapy with CFTR correctors.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia / Europa Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia / Europa Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza