Screening de variantes genéticas do CFTR na fibrose cística por tecnologia de sequenciamento de alto rendimento
Cystic fibrosis (OMIM #219700) is a severe, multiorgan genetic disease that affects mucus and sweat-producing cells, primarily causing chronic lung infections, pancreatic insufficiency, and high levels of sweat chloride. It originates from variants in the gene that encodes the cystic fibrosis co...
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| Formato: | Dissertação |
| Idioma: | pt_BR |
| Publicado em: |
Universidade Federal do Rio Grande do Norte
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| Endereço do item: | https://repositorio.ufrn.br/handle/123456789/54335 |
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| Resumo: | Cystic fibrosis (OMIM #219700) is a severe, multiorgan genetic disease
that affects mucus and sweat-producing cells, primarily causing chronic lung
infections, pancreatic insufficiency, and high levels of sweat chloride. It
originates from variants in the gene that encodes the cystic fibrosis
conductance regulatory protein (CFTR), being more frequent in white people.
The identification of the CF pathogenic variants allows the establishment of
precision medicine based on new therapies that modulate the CFTR protein.
The present study aimed to describe the clinical and molecular profiles of 37
cystic fibrosis patients from a referral center in Rio Grande do Norte. Saliva
samples were collected from 37 patients with cystic fibrosis, DNA was
extracted, about 50 ng of DNA was enriched with the Nextera Custom Rapid
Capture Kit (Illumina, San Diego, CA, USA), and the high throughput
sequencing (HTS) was performed through a HiSeq 4000 (Illumina). Eleven
different pathogenic variants were found, with c.1521_1523delCTT being the
predominant one in 27 cystic fibrosis patients (73%) (54.1% homozygous and
18.9% compound heterozygous). Among the patients with at least one allele
with c.1521_1523delCTT, 25 can benefit from CFTR modulators therapies
based on correctors and potentiators of the CFTR protein: 5 patients aged 2 to
5 years can be treated with the double combination lumacaftor and ivacaftor
and 20 patients aged 6 years old and over can be treated with the triple
combination elexacaftor, tezacaftor and ivacaftor. Therefore, personalized
treatment will reflect on better control of comorbidities associated with cystic
fibrosis, as well as on the prognosis of patients who may have quality of life and
increased life expectancy. |
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