scholarly journals Collagen-VI Supplementation by Cell Transplantation Improves Muscle Regeneration in Ullrich Congenital Muscular Dystrophy Model Mice

2021 ◽  
Author(s):  
Nana Takenaka ◽  
Jinsol Kim ◽  
Mingming Zhao ◽  
Masae Sato ◽  
Tatsuya Jonouchi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cell Transplantation ◽  
Muscle Regeneration ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Nana Takenaka-Ninagawa ◽  
Jinsol Kim ◽  
Mingming Zhao ◽  
Masae Sato ◽  
Tatsuya Jonouchi ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Cell Transplantation ◽  
Muscle Regeneration ◽  
Congenital Muscular Dystrophy ◽  
Induced Pluripotent Stem Cell ◽  
Skeletal Muscle Regeneration ◽  
Ullrich Congenital Muscular Dystrophy

Abstract Background Mesenchymal stromal cells (MSCs) function as supportive cells on skeletal muscle homeostasis through several secretory factors including type 6 collagen (COL6). Several mutations of COL6A1, 2, and 3 genes cause Ullrich congenital muscular dystrophy (UCMD). Skeletal muscle regeneration deficiency has been reported as a characteristic phenotype in muscle biopsy samples of human UCMD patients and UCMD model mice. However, little is known about the COL6-dependent mechanism for the occurrence and progression of the deficiency. The purpose of this study was to clarify the pathological mechanism of UCMD by supplementing COL6 through cell transplantation. Methods To test whether COL6 supplementation has a therapeutic effect for UCMD, in vivo and in vitro experiments were conducted using four types of MSCs: (1) healthy donors derived-primary MSCs (pMSCs), (2) MSCs derived from healthy donor induced pluripotent stem cell (iMSCs), (3) COL6-knockout iMSCs (COL6KO-iMSCs), and (4) UCMD patient-derived iMSCs (UCMD-iMSCs). Results All four MSC types could engraft for at least 12 weeks when transplanted into the tibialis anterior muscles of immunodeficient UCMD model (Col6a1KO) mice. COL6 protein was restored by the MSC transplantation if the MSCs were not COL6-deficient (types 1 and 2). Moreover, muscle regeneration and maturation in Col6a1KO mice were promoted with the transplantation of the COL6-producing MSCs only in the region supplemented with COL6. Skeletal muscle satellite cells derived from UCMD model mice (Col6a1KO-MuSCs) co-cultured with type 1 or 2 MSCs showed improved proliferation, differentiation, and maturation, whereas those co-cultured with type 3 or 4 MSCs did not. Conclusions These findings indicate that COL6 supplementation improves muscle regeneration and maturation in UCMD model mice.

scholarly journals Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity

2005 ◽  
Vol 63 (3b) ◽  
pp. 785-790 ◽  
Author(s):  
Umbertina Conti Reed ◽  
Lucio Gobbo Ferreira ◽  
Enna Cristina Liu ◽  
Maria Bernadete Dutra Resende ◽  
Mary Souza Carvalho ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Ventilatory Support ◽  
Congenital Muscular Dystrophy ◽  
Molecular Study ◽  
Collagen Vi ◽  
Bethlem Myopathy ◽  
Recessive Form ◽  
Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

scholarly journals Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy

2014 ◽  
Vol 5 (1) ◽  
pp. 21 ◽  
Author(s):  
Vitali Alexeev ◽  
Machiko Arita ◽  
Adele Donahue ◽  
Paolo Bonaldo ◽  
Mon-Li Chu ◽  
...  
Keyword(s):  
Stem Cell ◽  
Muscular Dystrophy ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Adipose Derived Stem Cell

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

2014 ◽  
Vol 10 (2) ◽  
pp. 126-132 ◽  
Author(s):  
Yan-Zhi Zhang ◽  
Dan-Hua Zhao ◽  
Hai-Po Yang ◽  
Ai-Jie Liu ◽  
Xing-Zhi Chang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Chinese Patients ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

2004 ◽  
Vol 24 (6) ◽  
pp. 440-444 ◽  
Author(s):  
Martin Brockington ◽  
Susan C. Brown ◽  
Anne Lampe ◽  
Yeliz Yuva ◽  
Lucy Feng ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Haplotype Analysis ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

2002 ◽  
Vol 277 (46) ◽  
pp. 43557-43564 ◽  
Author(s):  
Rui-Zhu Zhang ◽  
Patrizia Sabatelli ◽  
Te-Cheng Pan ◽  
Stefano Squarzoni ◽  
Elisabetta Mattioli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mrna Stability ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

P.P.7 02 Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy

2006 ◽  
Vol 16 (9-10) ◽  
pp. 714
Author(s):  
P. Sabatelli ◽  
Y. Zou ◽  
S. Squarzoni ◽  
C. Bönnemann ◽  
L. Merlini ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation

2007 ◽  
Vol 17 (9-10) ◽  
pp. 848-849
Author(s):  
L. Briñas ◽  
C. Gartioux ◽  
C. Ledeuil ◽  
S. Quijano-Roy ◽  
S. Makri ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mrna Degradation ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy
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