Polymorphism in exercise genes and respiratory function in late-onset Pompe disease-Reference-Cited by-同舟云学术

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

Published:2021-12-01 Issue:6 Volume:131 Page:1762-1771
ISSN:8750-7587
Container-title:Journal of Applied Physiology
language:en
Short-container-title:Journal of Applied Physiology

Author:

Ravaglia Sabrina¹^ORCID,Malovini Alberto²,Cirio Serena²,Danesino Cesare³,De Filippi Paola³,Moggio Maurizio⁴,Mongini Tiziana⁵,Maggi Lorenzo⁶,Servidei Serena⁷,Vianello Andrea⁸,Toscano Antonio⁹,Tonin Paola¹⁰,Maioli Maria Antonietta¹¹,Parini Rossella¹²,Filosto Massimiliano¹³¹⁴,Crescimanno Grazia¹⁵,Arceri Sebastiano¹,Piran Manuela²,Carlucci Annalisa²

Affiliation:

1. Neurologia d’Urgenza, IRCCS Mondino Foundation, Pavia, Italy

2. Riabilitazione respiratoria, Istituti Clinici Scientifici Maugeri, Pavia, Italy

3. Dipartimento di Medicina Molecolare, Unità di Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy

4. UO Malattie Neuromuscolari e Rare, IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Centro Dino Ferrari Univ Studi Milano, Milan, Italy

5. Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy

6. Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

7. Istituto di Neurologia, Università Cattolica Policlinico Gemelli, Rome, Italy

8. Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, Padova, Italy

9. Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy

10. Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy

11. Centro Sclerosi Multipla, P.O. Binaghi, ASSL Cagliari, Cagliari, Italy

12. Fondazione MBBM presso Ospedale San Gerardo, Monza, Italy

13. Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

14. NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

15. Regional Center for Prevention and Treatment of Respiratory Complications of Rare Genetic Neuromuscular Diseases, Villa Sofia-Cervello Hospital, Palermo, Italy

Abstract

Previous reports evaluated the role of exercise genes in influencing skeletal muscle phenotype and response to ERT in LOPD. Here, we investigate the role of polymorphisms in several exercise gene, focusing on respiratory muscles. ACE-DD and ACTN3-XX polymorphisms, possibly influencing muscle properties and fiber composition, were associated with more severe respiratory phenotypes.

Funder

Italian Ministry of Health

Publisher

American Physiological Society

Subject

Physiology (medical),Physiology

Link

https://journals.physiology.org/doi/pdf/10.1152/japplphysiol.00154.2020

Reference34 articles.

1. Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

2. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

3. Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

4. Supine volume drop and diaphragmatic function in adults with Pompe disease: Table 1–

5. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study;International Journal of Molecular Sciences;2024-08-23

2. Metabolic Myopathies in the Era of Next-Generation Sequencing;Genes;2023-04-22

3. Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience;Frontiers in Endocrinology;2022-03-04