Evidence map›Paper›PMID 39703441›Full record

ArticleTanaffos2024

Common Mutations in the Surfactant Protein-C Gene in Iranian Patients with Diffuse Parenchymal Lung Disease.

Mihan Pourabdollah Toutkaboni, Elham Askari, Jalal Heshmatnia, Mitra Rezaei, Maryam Hasanzad, Atosa Dorudinia, Mehrdad Bakhshayesh Karam, Leila Mohammadi Ziazi, Maryam-Fatemeh Sheikholeslami

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Article in Tanaffos, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Mihan Pourabdollah ToutkaboniPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Elham AskariChronic Respiratory Diseases Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jalal HeshmatniaChronic Respiratory Diseases Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mitra RezaeiGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Maryam HasanzadPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Atosa DorudiniaPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mehrdad Bakhshayesh KaramPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Leila Mohammadi ZiaziPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Maryam-Fatemeh SheikholeslamiPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Recently, genetic mutations in surfactant protein C (SFTPC) have been linked to diffuse parenchymal lung diseases (DPLD). The present study investigated Materials and Methods: In this study, we examined 28 patients diagnosed with DPLD. Patients were divided into two groups: 23 cases (82.1%) had interstitial lung disease (ILD), 7 (30.4%) of which were categorized as familial ILD, and 5 cases (17.9%) had pulmonary alveolar proteinosis (PAP). Genetic variations in the Results: The mean (±SD) age of patients was 21.8 (± 17.1) years and 60.7% of the patients were male. Overall, 11 different mutations were detected in the Conclusion: It seems that the rs2070684 (c.201+49 C>T) mutation could be used as a specific genetic marker for distinguishing the Iranian population from other human races in the world. There was a correlation between some intronic variations and the development of disease. A new missense mutation, c.416 G>C that encodes Arg139Thr, could probably damage the protein structure and/or function and cause the signs and symptoms of DPLD.

Indexed as

Gene mutationInterstitial lung diseasePulmonary alveolar proteinosisSurfactant protein C

Identifiers

PMID39703441
PMCPMC11655001

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