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Article ; Online: Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

Morimoto, Marie / Wang, Karen J / Yu, Zhongxin / Gormley, Andrew K / Parham, David / Bogdanovic, Radovan / Lücke, Thomas / Mayfield, Christy / Weksberg, Rosanna / Hendson, Glenda / Boerkoel, Cornelius F

Pediatric research

2015 Volume 78, Issue 6, Page(s) 609–617

Abstract: Background: Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in SMARCAL1. A frequent complication is arteriosclerosis associated with reduced elastin expression; however, the mechanism underlying the reduced ...

Abstract	Background: Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in SMARCAL1. A frequent complication is arteriosclerosis associated with reduced elastin expression; however, the mechanism underlying the reduced elastin expression remains unknown. Methods: Expression of transcriptional regulators of elastin (ELN) and microRNA (miRNA) regulators of ELN messenger RNA (mRNA), ELN promoter methylation, and ELN mRNA poly(A) tail length were assessed by quantitative RT-PCR, bisulfite Sanger sequencing, and the Poly(A) Tail Length Assay Kit, respectively, in unaffected developing human aortae and in an SIOD aorta. Results: Comparing unaffected fetal and adult aortae, ELN precursor mRNA (pre-mRNA) levels remained nearly constant, whereas mRNA levels declined by ~10(2)-fold. This corresponded with a reduction in poly(A) tail length but not with changes in the other parameters. In contrast, compared to the unaffected fetal aortae, the SIOD aorta had 18-fold less ELN pre-mRNA and 10(4)-fold less mRNA. This corresponded with increased expression of miRNA regulators and shorter ELN mRNA poly(A) tail lengths but not with altered expression of ELN transcriptional regulators or ELN promoter methylation. Conclusion: Posttranscriptional mechanisms account for the reduction in ELN mRNA levels in unaffected aortae, whereas transcriptional and posttranscriptional mechanisms reduce elastin expression in SIOD aorta and predispose to arteriosclerosis.
MeSH term(s)	Adolescent ; Adult ; Aorta/embryology ; Aorta/metabolism ; Aorta/pathology ; Arteriosclerosis/embryology ; Arteriosclerosis/genetics ; Arteriosclerosis/metabolism ; Arteriosclerosis/pathology ; Case-Control Studies ; Cells, Cultured ; Child ; Child, Preschool ; DNA Methylation ; Down-Regulation ; Elastin/genetics ; Elastin/metabolism ; Female ; Gestational Age ; Humans ; Immunologic Deficiency Syndromes/embryology ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/metabolism ; Immunologic Deficiency Syndromes/pathology ; Male ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Middle Aged ; Nephrotic Syndrome/embryology ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Nephrotic Syndrome/pathology ; Osteochondrodysplasias/embryology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/metabolism ; Osteochondrodysplasias/pathology ; Promoter Regions, Genetic ; Pulmonary Embolism/embryology ; Pulmonary Embolism/genetics ; Pulmonary Embolism/metabolism ; Pulmonary Embolism/pathology ; RNA Precursors/genetics ; RNA Precursors/metabolism ; RNA Processing, Post-Transcriptional ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Transcription, Genetic
Chemical Substances	MicroRNAs ; RNA Precursors ; RNA, Messenger ; Transcription Factors ; Elastin (9007-58-3)
Language	English
Publishing date	2015-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1038/pr.2015.156
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Article ; Online: Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto, Marie / Myung, Clara / Beirnes, Kimberly / Choi, Kunho / Asakura, Yumi / Bokenkamp, Arend / Bonneau, Dominique / Brugnara, Milena / Charrow, Joel / Colin, Estelle / Davis, Amira / Deschenes, Georges / Gentile, Mattia / Giordano, Mario / Gormley, Andrew K / Govender, Rajeshree / Joseph, Mark / Keller, Kory / Lerut, Evelyne /

Levtchenko, Elena / Massella, Laura / Mayfield, Christy / Najafian, Behzad / Parham, David / Spranger, Jurgen / Stenzel, Peter / Yis, Uluc / Yu, Zhongxin / Zonana, Jonathan / Hendson, Glenda / Boerkoel, Cornelius F

Orphanet journal of rare diseases

2016 Volume 11, Issue 1, Page(s) 149

Abstract: Background: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression ...

Abstract	Background: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila. Results: We found increased expression of components and targets of the Wnt and Notch signaling pathways in the SIOD patient kidney, increased levels of unphosphorylated β-catenin and Notch1 intracellular domain in the glomeruli of most SIOD patient kidneys, and genetic interaction between the Drosophila SMARCAL1 homologue Marcal1 and genes of the Wnt and Notch signaling pathways. Conclusions: We conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.
MeSH term(s)	Animals ; Arteriosclerosis/genetics ; Arteriosclerosis/metabolism ; Child ; Child, Preschool ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Fluorescent Antibody Technique, Indirect ; Glomerulosclerosis, Focal Segmental/genetics ; Glomerulosclerosis, Focal Segmental/metabolism ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/metabolism ; Kidney Diseases/genetics ; Kidney Diseases/metabolism ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/metabolism ; Pulmonary Embolism/genetics ; Pulmonary Embolism/metabolism ; Receptors, Notch/metabolism ; Wnt Proteins/genetics ; Wnt Proteins/metabolism
Chemical Substances	Receptors, Notch ; Wnt Proteins ; SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2016--05
Publishing country	England
Document type	Journal Article
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-016-0519-7
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Article ; Online: Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Sanyal, Mrinmoy / Morimoto, Marie / Baradaran-Heravi, Alireza / Choi, Kunho / Kambham, Neeraja / Jensen, Kent / Dutt, Suparna / Dionis-Petersen, Kira Y / Liu, Lan Xiang / Felix, Katie / Mayfield, Christy / Dekel, Benjamin / Bokenkamp, Arend / Fryssira, Helen / Guillen-Navarro, Encarna / Lama, Giuliana / Brugnara, Milena / Lücke, Thomas / Olney, Ann Haskins /

Hunley, Tracy E / Polat, Ayse Ipek / Yis, Uluc / Bogdanovic, Radovan / Mitrovic, Katarina / Berry, Susan / Najera, Lydia / Najafian, Behzad / Gentile, Mattia / Nur Semerci, C / Tsimaratos, Michel / Lewis, David B / Boerkoel, Cornelius F

Clinical immunology (Orlando, Fla.)

2015 Volume 161, Issue 2, Page(s) 355–365

Abstract: Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 ...

Abstract	Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7Rα) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7Rα expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients.
MeSH term(s)	Adolescent ; Adult ; Arteriosclerosis/genetics ; Arteriosclerosis/metabolism ; Arteriosclerosis/pathology ; Cells, Cultured ; Child ; Child, Preschool ; DNA Helicases/genetics ; DNA Methylation ; Flow Cytometry ; Gene Expression ; Humans ; Immunohistochemistry ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/metabolism ; Immunologic Deficiency Syndromes/pathology ; Interleukin-17/pharmacology ; Leukocytes, Mononuclear/drug effects ; Leukocytes, Mononuclear/metabolism ; Mutation ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Nephrotic Syndrome/pathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/metabolism ; Osteochondrodysplasias/pathology ; Promoter Regions, Genetic/genetics ; Pulmonary Embolism/genetics ; Pulmonary Embolism/metabolism ; Pulmonary Embolism/pathology ; Receptors, Interleukin-7/genetics ; Receptors, Interleukin-7/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; T-Lymphocytes/metabolism ; Young Adult
Chemical Substances	Interleukin-17 ; Receptors, Interleukin-7 ; interleukin-7 receptor, alpha chain ; SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2015-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2015.10.005
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Article ; Online: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Baradaran-Heravi, Alireza / Cho, Kyoung Sang / Tolhuis, Bas / Sanyal, Mrinmoy / Morozova, Olena / Morimoto, Marie / Elizondo, Leah I / Bridgewater, Darren / Lubieniecka, Joanna / Beirnes, Kimberly / Myung, Clara / Leung, Danny / Fam, Hok Khim / Choi, Kunho / Huang, Yan / Dionis, Kira Y / Zonana, Jonathan / Keller, Kory / Stenzel, Peter /

Mayfield, Christy / Lücke, Thomas / Bokenkamp, Arend / Marra, Marco A / van Lohuizen, Maarten / Lewis, David B / Shaw, Chad / Boerkoel, Cornelius F

Human molecular genetics

2012 Volume 21, Issue 11, Page(s) 2572–2587

Abstract: Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal ... ...

Abstract	Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionally active chromatin and modulate gene expression. We also show that, as found in SIOD patients, deficiency of the SMARCAL1 orthologs alone is insufficient to cause disease in fruit flies and mice, although such deficiency causes modest diffuse alterations in gene expression. Rather, disease manifests when SMARCAL1 deficiency interacts with genetic and environmental factors that further alter gene expression. We conclude that the SMARCAL1 annealing helicase buffers fluctuations in gene expression and that alterations in gene expression contribute to the penetrance of SIOD.
MeSH term(s)	Alleles ; Animals ; Arteriosclerosis/genetics ; Arteriosclerosis/metabolism ; Chromatin/metabolism ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Disease Models, Animal ; Drosophila/enzymology ; Embryo, Nonmammalian/metabolism ; Environment ; Gene Expression ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/metabolism ; Mice ; Mutation ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/metabolism ; Penetrance ; Primary Immunodeficiency Diseases ; Pulmonary Embolism/genetics ; Pulmonary Embolism/metabolism
Chemical Substances	Chromatin ; SMARCAL1 protein, human (EC 2.7.7.-) ; Smarcal1 protein, mouse (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2012-02-28
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/dds083
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Article ; Online: Reduced elastogenesis

Morimoto Marie / Yu Zhongxin / Stenzel Peter / Clewing J / Najafian Behzad / Mayfield Christy / Hendson Glenda / Weinkauf Justin G / Gormley Andrew K / Parham David M / Ponniah Umakumaran / André Jean-Luc / Asakura Yumi / Basiratnia Mitra / Bogdanović Radovan / Bokenkamp Arend / Bonneau Dominique / Buck Anna / Charrow Joel /

Cochat Pierre / Cordeiro Isabel / Deschenes Georges / Fenkçi M / Frange Pierre / Fründ Stefan / Fryssira Helen / Guillen-Navarro Encarna / Keller Kory / Kirmani Salman / Kobelka Christine / Lamfers Petra / Levtchenko Elena / Lewis David B / Massella Laura / McLeod D / Milford David V / Nobili François / Saraiva Jorge M / Semerci C / Shoemaker Lawrence / Stajić Nataša / Stein Anja / Taha Doris / Wand Dorothea / Zonana Jonathan / Lücke Thomas / Boerkoel Cornelius F

Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p

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

2012 Volume 70

Abstract: Abstract 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 ... ...

Abstract	Abstract 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.
Keywords	Schimke immuno-osseous dysplasia ; SMARCAL1 ; Elastin ; Vascular disease ; Pulmonary emphysema ; Medicine ; R
Subject code	610
Language	English
Publishing date	2012-09-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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Article ; Online: Schimke immunoosseous dysplasia: defining skeletal features.

Hunter, Kshamta B / Lücke, Thomas / Spranger, Jürgen / Smithson, Sarah F / Alpay, Harika / André, Jean-Luc / Asakura, Yumi / Bogdanovic, Radovan / Bonneau, Dominique / Cairns, Robyn / Cransberg, Karlien / Fründ, Stefan / Fryssira, Helen / Goodman, David / Helmke, Knut / Hinkelmann, Barbara / Lama, Guiliana / Lamfers, Petra / Loirat, Chantal /

Majore, Silvia / Mayfield, Christy / Pontz, Bertram F / Rusu, Cristina / Saraiva, Jorge M / Schmidt, Beate / Shoemaker, Lawrence / Sigaudy, Sabine / Stajic, Natasa / Taha, Doris / Boerkoel, Cornelius F

European journal of pediatrics

2009 Volume 169, Issue 7, Page(s) 801–811

Abstract: Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix- ... ...

Abstract	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.
MeSH term(s)	Adolescent ; Adult ; Bone and Bones/diagnostic imaging ; Child ; Child, Preschool ; DNA Helicases/genetics ; Diagnosis, Differential ; Genetic Heterogeneity ; Glomerulosclerosis, Focal Segmental/genetics ; Humans ; Lymphopenia/genetics ; Mutation ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Phenotype ; Radiography ; Syndrome
Chemical Substances	SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2009-12-15
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	194196-3
ISSN	1432-1076 ; 0340-6199 ; 0943-9676
ISSN (online)	1432-1076
ISSN	0340-6199 ; 0943-9676
DOI	10.1007/s00431-009-1115-9
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Article ; Online: Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, Marie / Yu, Zhongxin / Stenzel, Peter / Clewing, J Marietta / Najafian, Behzad / Mayfield, Christy / Hendson, Glenda / Weinkauf, Justin G / Gormley, Andrew K / Parham, David M / Ponniah, Umakumaran / André, Jean-Luc / Asakura, Yumi / Basiratnia, Mitra / Bogdanović, Radovan / Bokenkamp, Arend / Bonneau, Dominique / Buck, Anna / Charrow, Joel /

Cochat, Pierre / Cordeiro, Isabel / Deschenes, Georges / Fenkçi, M Semin / Frange, Pierre / Fründ, Stefan / Fryssira, Helen / Guillen-Navarro, Encarna / Keller, Kory / Kirmani, Salman / Kobelka, Christine / Lamfers, Petra / Levtchenko, Elena / Lewis, David B / Massella, Laura / McLeod, D Ross / Milford, David V / Nobili, François / Saraiva, Jorge M / Semerci, C Nur / Shoemaker, Lawrence / Stajić, Nataša / Stein, Anja / Taha, Doris / Wand, Dorothea / Zonana, Jonathan / Lücke, Thomas / Boerkoel, Cornelius F

Orphanet journal of rare diseases

2012 Volume 7, Page(s) 70

Abstract: 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, ...

Abstract	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.
MeSH term(s)	Adult ; Arteriosclerosis/genetics ; Arteriosclerosis/physiopathology ; Autopsy ; Child ; Child, Preschool ; DNA Helicases/genetics ; Emphysema/genetics ; Emphysema/physiopathology ; Female ; Humans ; Immunohistochemistry ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/physiopathology ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/physiopathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/physiopathology ; Primary Immunodeficiency Diseases ; Pulmonary Embolism/genetics ; Pulmonary Embolism/physiopathology
Chemical Substances	SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2012-09-22
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/1750-1172-7-70
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Article ; Online: Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

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Article ; Online: Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

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Article ; Online: Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

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Article ; Online: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

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Article ; Online: Reduced elastogenesis

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Article ; Online: Schimke immunoosseous dysplasia: defining skeletal features.

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

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