Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet Journal of Rare Diseases

Cornelius F Boerkoel^2,20  Thomas Lücke²  Jonathan Zonana^2,29  Dorothea Wand^2,25  Doris Taha^3,30  Anja Stein^1,14  Nataša Stajić^3,31  Lawrence Shoemaker^3,37  C Nur Semerci^1,15  Jorge M Saraiva^2,24  François Nobili^2,26  David V Milford^3,34  D Ross McLeod^2,21  Laura Massella^1,13  David B Lewis⁶  Elena Levtchenko^2,28  Petra Lamfers^4,40  Christine Kobelka⁴  Salman Kirmani^1,11  Kory Keller^2,29  Encarna Guillen-Navarro⁷  Helen Fryssira^1,17  Stefan Fründ⁸  Pierre Frange^3,36  M Semin Fenkçi⁹  Georges Deschenes^1,10  Isabel Cordeiro^3,38  Pierre Cochat^1,16  Joel Charrow^4,42  Anna Buck^3,33  Dominique Bonneau^3,35  Arend Bokenkamp^1,12  Radovan Bogdanović^3,31  Mitra Basiratnia^2,23  Yumi Asakura¹  Jean-Luc André^1,18  Umakumaran Ponniah^3,32  David M Parham³  Andrew K Gormley^3,32  Justin G Weinkauf^3,39  Glenda Hendson⁵  Christy Mayfield^1,19  Behzad Najafian^4,41  J Marietta Clewing^2,27  Peter Stenzel^2,22  Zhongxin Yu³  Marie Morimoto^2,20 

[1] Department of Endocrinology & Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan;Department of Neuropediatrics, Children’s Hospital, Ruhr-University Bochum, Bochum, Germany;Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America;Department of Genetics, Kaiser Permanente, San Francisco, California, United States of America;Department of Anatomic Pathology, University of British Columbia and Children’s and Women’s Health Centre of British Columbia, Vancouver, British Columbia, Canada;Department of Pediatrics, Immunology Program and Institute for Immunity, Transplantation, and Infection, Stanford University, Stanford, California, United States of America;Unidad de Genética Médica, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain;Department of General Pediatrics, Pediatric Nephrology, University Children’s Hospital Münster, Münster, Germany;Department of Internal Medicine, Division of Endocrinology and Metabolism, Cerrahi Hospital, Denizli, Turkey;Département de Pédiatrie, Hôpital Robert Debré, Paris, France;Medical Genetics, Mayo Clinic, Rochester, Minnesota, United States of America;Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands;Divison of Nephrology, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy;Universitätsklinikum Essen, Kinderklinik, Essen, Germany;Department of Medical Genetics, Pamukkale University Hospital, Denizli, Turkey;Centre de Référence des Maladies Rènales Rares, Hospices Civils de Lyon and Université de Lyon, Bron Cedex, France;Department of Medical Genetics, “Aghia Sophia” Children’s Hospital, Athens University Medical School, Athens, Greece;Néphrologie Pédiatrique, Hôpital d’Enfants, Centre Hospitalier Universitaire de Nancy, Vandoeuvre lés Nancy Cedex, France;Warren Clinic, Tulsa, Oklahoma, United States of America;Rare Disease Foundation, Vancouver, British Columbia, Canada;Department of Medical Genetics, Alberta Children’s Hospital, Calgary, Alberta, Canada;Department of Pathology, Oregon Health and Science University, Portland, Oregon, United States of America;Department of Pediatric Nephrology, Nephro-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran;Consulta de Genética, Hospital Pediátrico de Coimbra, Coimbra, Portugal;Institut für Humangenetik, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany;Service de Pédiatrie, Centre Hospitalier Régional Universitaire Hôpital Saint-Jacques, Besançon Cedex, France;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America;Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium;Oregon Institute on Disability & Development, Child Development and Rehabilitation Center, Oregon Health & Science University, Portland, Oregon, United States of America;Cape Breton Regional Hospital, Sydney, Nova Scotia, Canada;Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia;Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America;Medizinische Hochschule Hannover, Kinderklinik, Hannover, Germany;Department of Nephrology, Birmingham Children’s Hospital, Birmingham, United Kingdom;Département de Génétique, Centre Hospitalier Universitaire d’Angers, Angers, France;Pediatric Immunology & Hematology Unit, Necker Hospital, Paris, France;Division of Nephrology, Department of Pediatrics, Kosair Children’s Hospital, School of Medicine, University of Louisville, Louisville, Kentucky, United States of America;Serviço de Genética, Hospital Santa Maria, Centro Hospitalar Lisoboa Norte, Lisbon, Portugal;Department of Medicine, University of Alberta, Edmonton, Alberta, Canada;Mercy Pediatrics and Adolescent Clinic, Clear Lake, Iowa, United States of America;Department of Pathology, University of Washington, Seattle, Washington, United States of America;Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, Illinois, United States of America

关键词: Pulmonary emphysema;    Vascular disease;    Elastin;    SMARCAL1;    Schimke immuno-osseous dysplasia;   

Others  :  864200
DOI  :  10.1186/1750-1172-7-70

 received in 2012-03-15, accepted in 2012-09-14,  发布年份 2012

【 摘 要 】

Background

Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.

Methods

We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients.

Results

Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression.

Conclusions

This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.

【 授权许可】

   
2012 Morimoto et al.; licensee BioMed Central Ltd.

【 图 表 】

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