scholarly journals Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis

2019 ◽  
Vol 40 (2) ◽  
pp. 195-198 ◽  
Author(s):  
Mohammed Alzaid ◽  
Abdullah Alshamrani ◽  
Adel Al Harbi ◽  
Ayed Alenzi ◽  
Sarar Mohamed
Keyword(s):  
Pulmonary Alveolar Proteinosis ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Alveolar Proteinosis ◽  
Methionyl Trna Synthetase

scholarly journals Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

2015 ◽  
Vol 96 (5) ◽  
pp. 826-831 ◽  
Author(s):  
Alice Hadchouel ◽  
Thomas Wieland ◽  
Matthias Griese ◽  
Enrico Baruffini ◽  
Bettina Lorenz-Depiereux ◽  
...  
Keyword(s):  
Pulmonary Alveolar Proteinosis ◽  
Trna Synthetase ◽  
Reunion Island ◽  
Réunion Island ◽  
Alveolar Proteinosis ◽  
Biallelic Mutations ◽  
Methionyl Trna Synthetase

scholarly journals Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl‐tRNA synthetase activity

FEBS Journal ◽  
2018 ◽  
Vol 285 (14) ◽  
pp. 2654-2661 ◽  
Author(s):  
Martine Comisso ◽  
Alice Hadchouel ◽  
Jacques Blic ◽  
Marc Mirande
Keyword(s):  
Pulmonary Alveolar Proteinosis ◽  
Trna Synthetase ◽  
Synthetase Activity ◽  
Alveolar Proteinosis ◽  
Methionyl Trna Synthetase

scholarly journals Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis

2021 ◽  
pp. 2101554
Author(s):  
Alice Hadchouel ◽  
David Drummond ◽  
Clément Pontoizeau ◽  
Laura Aoust ◽  
Maria-Margarita Hurtado Nedelec ◽  
...  
Keyword(s):  
Reactive Oxygen Species ◽  
Pulmonary Alveolar Proteinosis ◽  
Growth Failure ◽  
Reactive Oxygen ◽  
Lung Lavage ◽  
Trna Synthetase ◽  
Growth Delay ◽  
Oxygen Species ◽  
Methionine Supplementation ◽  
Alveolar Proteinosis

IntroductionPulmonary alveolar proteinosis related to mutations in the methionine tRNA synthetase (MARS1) gene is a severe, early-onset disease that results in death before the age of 2 years in one-third of patients. It is associated with a liver disease, growth failure and systemic inflammation. As methionine supplementation in yeast models restored normal enzymatic activity of the synthetase, we studied the tolerance, safety and efficacy of daily oral methionine supplementation in patients with severe and early disease.MethodsFour patients received methionine supplementation and were followed for respiratory, hepatic, growth, and inflammation-related outcomes. Their course was compared to those of historical controls. Reactive oxygen species (ROS) production by patient monocytes before and after methionine supplementation was also studied.ResultsMethionine supplementation was associated with respiratory improvement, clearance of the extracellular lipoproteinaceous material, and discontinuation of whole-lung lavage in all patients. The three patients who required oxygen or non-invasive ventilation could be weaned off within 60 days. Liver dysfunction, inflammation, and growth delay also improved or resolved. At a cellular level, methionine supplementation normalised the production of reactive oxygen species by peripheral monocytes.ConclusionMethionine supplementation was associated with important improvements in children with pulmonary alveolar proteinosis related to mutations in the MARS1 gene. This study paves the way for similar strategies for other tRNA synthetase deficiencies.

scholarly journals Blood Testing for Differential Diagnosis of Pulmonary Alveolar Proteinosis Syndrome

CHEST Journal ◽  
2019 ◽  
Vol 155 (2) ◽  
pp. 450-452 ◽  
Author(s):  
Cormac McCarthy ◽  
Brenna Carey ◽  
Bruce C. Trapnell
Keyword(s):  
Differential Diagnosis ◽  
Pulmonary Alveolar Proteinosis ◽  
Blood Testing ◽  
Alveolar Proteinosis
Sign in / Sign up

Export Citation Format

Share Document