Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy-Reference-Cited by-同舟云学术

Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy

Published:2021-05-01 Issue:5 Volume:320 Page:G768-G779
ISSN:0193-1857
Container-title:American Journal of Physiology-Gastrointestinal and Liver Physiology
language:en
Short-container-title:American Journal of Physiology-Gastrointestinal and Liver Physiology

Author:

Boschetti Elisa¹²^ORCID,D’Angelo Roberto³,Tardio Maria Lucia⁴,Costa Roberta¹,Giordano Carla⁵,Accarino Anna⁶,Malagelada Carolina⁶,Clavenzani Paolo⁷,Tugnoli Vitaliano¹,Caio Giacomo⁸,Righi Valeria⁹^ORCID,Garone Caterina²,D'Errico Antonietta⁴,Cenacchi Giovanna¹,Dotti Maria Teresa¹⁰,Stanghellini Vincenzo²,Sternini Catia¹¹^ORCID,Pironi Loris²,Rinaldi Rita³,Carelli Valerio¹¹²,De Giorgio Roberto⁸

Affiliation:

1. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

2. Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy

3. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC interaziendale Clinica Neurologica Metropolitana (NeuroMet), Neurologia AOU S. Orsola-Malpighi, Bologna, Italy

4. IRCCS St. Orsola-Malpighi Hospital, Bologna, Italy

5. Department of Medico-Surgical Sciences and Biotechnologies, University “La Sapienza”, Roma, Italy

6. Digestive System Research Unit, University Hospital Vall d'Hebron; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD); Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain

7. Department of Veterinary Medical Sciences, University of Bologna, Bologna, Italy

8. Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy

9. Department of Life Quality Studies, University of Bologna, Bologna, Italy

10. Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy

11. Digestive-Disease-Division, Departments of Medicine and Neurobiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California

12. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is characterized by a genetically driven defect of thymidine phosphorylase, a multitask enzyme playing a role also in angiogenesis. Indeed, major gastrointestinal bleedings are life-threatening complications of MNGIE. Thus, we focused on jejunal submucosal vasculature and showed intestinal microangiopathy as a novel feature occurring in this disease. Notably, vascular changes were associated with neuromuscular abnormalities, which may explain gut dysfunction and help to develop future therapeutic approaches in MNGIE.

Funder

HHS | NIH | National Institute of Diabetes and Digestive and Kidney Diseases

Ministero della Salute

Università degli Studi di Ferrara

Publisher

American Physiological Society

Subject

Physiology (medical),Gastroenterology,Hepatology,Physiology

Link

https://journals.physiology.org/doi/pdf/10.1152/ajpgi.00047.2021

Reference34 articles.

1. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network