P007 Features of the clinical course of cystic fibrosis due to the severity of the genotype (according to the Cystic Fibrosis Patient Registry of the Russian Federation (2017))

Krasovskiy, S.; Черняк, А. В.; Kashirskaya, N.; Kondratyeva, E.; Amelina, E.; Voronkova, A.; Starinova, M.; Brisin, V.; Lyagusha, D.; Golihina, T.; Ilyenkova, N.; Chikunov, V.; Vasilyuk, Nikolaj A.; Svetlichnaya, I.G.; Zhekayte, E.; Sherman, V.; Gorinova, Y.; Simonova, O.; Zonenko, O.; Semykin, S. Yu.; Mukhina, M.; Lavrova, A.E.; Erzutova, M.; Kondakova, Y.; Kutsev, Sergey I.; Петрова, Н. В.; Зинченко, Р. А.; Polyakov, A.; Adyan, T.

doi:10.1016/s1569-1993(19)30302-9

Cited by 2 publications

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“…Since 2014, information about complex alleles has become available in the register. The 2021 register indicates the allelic frequency of three complex alleles [ 5 ]. The selection of therapy for patients with cystic fibrosis also complicates the presence of complex alleles.…”

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confidence: 99%

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

Kondratyeva,

Melyanovskaya,

Efremova

et al. 2023

Genes

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The intricate nature of complex alleles presents challenges in the classification of CFTR gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international databases, with its pathogenicity yet to be established. Assessing the functionality of apical membrane ion channels in intestinal epithelium employed the intestinal current measurements (ICM) method, using rectal biopsy material. The effectivity of CFTR-targeted therapy was evaluated using a model of intestinal organoids of a patient harboring the genotype F508del/[E217G;G509D]. ICM analysis revealed diminished chloride channel function. Remarkably, [E217G;G509D] presence within intestinal organoids correlated with heightened residual CFTR function. Employing CFTR modulators facilitated the restoration of the functional CFTR protein. This multifaceted study intertwines genetic investigations, functional analyses, and therapeutic interventions, shedding light on the intricate interplay of complex alleles within CFTR mutations. The results highlight the potential of targeted CFTR modulators to restore functional integrity, offering promise for advancing precision treatments in cystic fibrosis management.

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Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

Kondratyeva,

Melyanovskaya,

Efremova

et al. 2023

Genes

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“…Частота диагностически значимых мутаций гена CFTR в разных популяциях варьирует, что обусловливает появление сложностей во время разработки региональных протоколов молекулярно-генетической диагностики и внедрения таргетной терапии при лечении больных МВ [4,5,6].…”

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Features of spectrum of pathogenic genetic variants of the CFTR gene in patients with cystic fibrosis from Krasnoyarsk territory

Ilyenkova¹,

Chikunov²,

Kondratieva³

2020

Medical news of the North Caucasus

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lenie-federalnyh-okrugov-rossii. Accessed 14 January, 2020. (In Russ.)]. 7. Кузнецов В. А. Введение в кавказоведение (историко-этнологические очерки народов Северного Кавказа). Владикавказ: ИПП им. В. А. Гассиева, 2004. [Kuznetsov V. A. Introduction to the study of Caucasus (historical and ethnological reviews of the ethnic groups of the North Caucasus). Vladikavkaz: Publisher V. A. Gassiev, 2004. (In Russ.)]. 8. Иващенко Т. Э., Баранов В. С. Биохимические и молекулярно-генетические основы патогенеза муковисцидоза. Санкт-Петербург: «Интермедика»; 2002. [Ivashchenko T. E., Baranov V. S. Biohemical and molecular genetic basics of cystic fibrosis pathogenesis. Saint-Petersburg: «Intermedika»; 2002. (In Russ.)]. 9. The molecular genetic epidemiology of cystic fibrosis. Report of a Joint Meeting of WHO/ECFTN/ICF(M)/ECFS.

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P007 Features of the clinical course of cystic fibrosis due to the severity of the genotype (according to the Cystic Fibrosis Patient Registry of the Russian Federation (2017))

Cited by 2 publications

References 0 publications

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

Features of spectrum of pathogenic genetic variants of the CFTR gene in patients with cystic fibrosis from Krasnoyarsk territory

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