Successful lung transplantation in genetic methionyl-tRNA synthetase–related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases

Roy, Charlotte; Allou, Nathalie; Coulomb, Aurore; Grenet, Dominique; Borie, Raphaël; Zuber, Benjamin; Hamid, Abdulmonem; Glorion, Matthieu; Brun, Anne-Laure; Longchamps, Elizabeth; Hadchouel, Alice; Brugiere, Olivier

doi:10.1016/j.ajt.2024.03.003

American Journal of Transplantation

2024

DOI: 10.1016/j.ajt.2024.03.003

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Successful lung transplantation in genetic methionyl-tRNA synthetase–related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases

Charlotte Roy,

Nathalie Allou,

Aurore Coulomb

et al.

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Cited by 2 publications

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Transfer RNA and small molecule therapeutics for aminoacyl‐tRNA synthetase diseases

Samuels,

Wu,

Mahmood

et al. 2024

The FEBS Journal

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Aminoacyl‐tRNA synthetases catalyze the ligation of a specific amino acid to its cognate tRNA. The resulting aminoacyl‐tRNAs are indispensable intermediates in protein biosynthesis, facilitating the precise decoding of the genetic code. Pathogenic alleles in the aminoacyl‐tRNA synthetases can lead to several dominant and recessive disorders. To date, disease‐specific treatments for these conditions are largely unavailable. We review pathogenic human synthetase alleles, the molecular and cellular mechanisms of tRNA synthetase diseases, and emerging approaches to allele‐specific treatments, including small molecules and nucleic acid‐based therapeutics. Current treatment approaches to rescue defective or dysfunctional tRNA synthetase mutants include supplementation with cognate amino acids and delivery of cognate tRNAs to alleviate bottlenecks in translation. Complementary approaches use inhibitors to target the integrated stress response, which can be dysregulated in tRNA synthetase diseases.

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Transfer RNA and small molecule therapeutics for aminoacyl‐tRNA synthetase diseases

Samuels,

Wu,

Mahmood

et al. 2024

The FEBS Journal

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Rare genetic interstitial lung diseases: a pictorial essay

Borie,

Berteloot,

Kannengiesser

et al. 2024

Eur Respir Rev

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The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual interstitial pneumonia or unclassifiable fibrosis. In children, the monogenic causes of pulmonary fibrosis are dominated by mutations in surfactant-related genes. These mutations are not associated with extrapulmonary signs and often manifest radiologically as unclassifiable fibrosis with cysts that can lead to chest wall deformities in adults. This review discusses these mutations, along with most of the monogenic causes of interstitial lung disease, including interferon-related genes, mutations in genes causing cystic lung disease, Hermansky–Pudlak syndrome, pulmonary alveolar proteinosis, lysinuric protein intolerance and lysosomal storage disorders, and their pulmonary and extrapulmonary manifestations.

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Successful lung transplantation in genetic methionyl-tRNA synthetase–related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases

Cited by 2 publications

References 15 publications

Transfer RNA and small molecule therapeutics for aminoacyl‐tRNA synthetase diseases

Transfer RNA and small molecule therapeutics for aminoacyl‐tRNA synthetase diseases

Rare genetic interstitial lung diseases: a pictorial essay

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