Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective

2013 ◽  
Vol 47 (6) ◽  
pp. 931-937 ◽  
Author(s):  
Arunkanth Ankala ◽  
Jordan N. Kohn ◽  
Rashna Dastur ◽  
Pradnya Gaitonde ◽  
Satish V. Khadilkar ◽  
...  
Keyword(s):  
Founder Mutations ◽  
Calpain 3

scholarly journals Early onset calpainopathy with normal non-functional calpain 3 level

2006 ◽  
Vol 48 (4) ◽  
pp. 304-306 ◽  
Author(s):  
R Lanzillo ◽  
S Aurino ◽  
M Fanin ◽  
M Aguennoz ◽  
F Vitale ◽  
...  
Keyword(s):  
Early Onset ◽  
Calpain 3

scholarly journals Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A

10.1038/10579 ◽  
1999 ◽  
Vol 5 (7) ◽  
pp. 849-849 ◽  
Author(s):  
S. Baghdiguian ◽  
M. Martin ◽  
I. Richard ◽  
F. Pons ◽  
C. Astier ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

scholarly journals Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

2008 ◽  
Vol 56 (11) ◽  
pp. 995-1001 ◽  
Author(s):  
Lydia U. Yamamoto ◽  
Fernando J. Velloso ◽  
Bruno L. Lima ◽  
Luciana L.Q. Fogaça ◽  
Flávia de Paula ◽  
...  
Keyword(s):  
Muscle Protein ◽  
Congenital Muscular Dystrophy ◽  
Clinical Severity ◽  
Variable Degree ◽  
Related Protein ◽  
Collagen Vi ◽  
Rimmed Vacuoles ◽  
Calpain 3 ◽  
Protein Alterations ◽  
Muscle Biopsies

Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, α-DG, and α2-laminin, in muscle biopsies from 13 unrelated LGMD2I patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a high frequency of rimmed vacuoles was also found. A variable degree of α2-laminin deficiency was detected in 12 patients through immunofluorescence analysis, and 10 patients presented α-DG deficiency on sarcolemmal membranes. Additionally, through Western blot analysis, deficiency of calpain 3 and dystrophin bands was found in four and two patients, respectively. All the remaining proteins showed a similar pattern to normal controls. These results suggest that, in our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of α2-laminin and α-DG on sections are prevalent, independently of mutation type or clinical severity.

scholarly journals Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3

2011 ◽  
Vol 20 (17) ◽  
pp. 3331-3345 ◽  
Author(s):  
Natalia Ermolova ◽  
Elena Kudryashova ◽  
Marino DiFranco ◽  
Julio Vergara ◽  
Irina Kramerova ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

scholarly journals An eccentric calpain, CAPN3/p94/calpain-3

Biochimie ◽  
2016 ◽  
Vol 122 ◽  
pp. 169-187 ◽  
Author(s):  
Yasuko Ono ◽  
Koichi Ojima ◽  
Fumiko Shinkai-Ouchi ◽  
Shoji Hata ◽  
Hiroyuki Sorimachi
Keyword(s):  
Calpain 3

TMOD-09. CREATION OF A P53-INDEPENDENT IN VITRO AND IN VIVO MODEL SYSTEM FOR THE STUDY OF H3.1K27M DIPG

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi217-vi217
Author(s):  
Joseph Lagas ◽  
Lihua Yang ◽  
Oren Becher ◽  
Joshua Rubin
Keyword(s):  
Sex Difference ◽  
High Grade Glioma ◽  
Model System ◽  
In Vivo Model ◽  
Oligodendrocyte Progenitor Cells ◽  
Cell Of Origin ◽  
Founder Mutations ◽  
Transgenic Mouse Line

Abstract Diffuse Intrinsic Pontine Glioma (DIPG) is a devastating pediatric high-grade glioma that occurs in the brainstem with a median survival of less than 1 year. A greater understanding of the early tumorigenic events is essential for the development of effective therapeutics. DIPG is characterized by founder mutations in histone H3, either H3.1K27M or H3.3K27M. These mutations cause global hypomethylation, resulting in aberrant gene expression. It is unknown how this mechanism contributes to tumorigenesis. Interestingly, H3.1K27M DIPG show an increased incidence in females, whereas H3.3K27M DIPG shows no sex difference. This illustrates that the tumorigenic potential of H3.1K27M may be different between the sexes. Few models of DIPG incorporate the study of H3.1K27M despite the fact that it represents a unique opportunity to obtain valuable information on the tumorigenesis of DIPG through the study of the sex difference. Thus, we have created an in vitro and in vivo model system for H3.1K27M DIPG utilizing the RCAS mouse model system. This system utilizes RCAS vectors and a RCAS-ntva transgenic mouse line to deliver specific mutations to nestin expressing cells in the brainstem, including oligodendrocyte progenitor cells (OPCs), the predicted cell of origin. Delivering H3.1K27M, ACVR1 R206H, and PDGFaa at postnatal day 7 produces DIPG-like tumors in vivo, confirmed by H and E staining, between 60 – 110 days post injection. Additionally, confirmed through immunofluorescence staining, we can isolate a pure population of OPCs via immunopanning and infect them with RCAS vectors in vitro to produce stable expression of H3.1K27M. Introduction of H3.1K27M alone into male and female OPC cultures provides an opportunity to compare the early tumorigenic effects of H3.1K27M between the sexes in vitro. These results demonstrate that we have created an in vitro and in vivo H3.1K27M DIPG model system for the study of sex differences and tumorigenesis in DIPG.

scholarly journals GNE Myopathy: Two Clusters with History and Several Founder Mutations

2015 ◽  
Vol 2 (s2) ◽  
pp. S73-S76 ◽  
Author(s):  
Zohar Argov ◽  
Stella Mitrani Rosenbaum
Keyword(s):  
Founder Mutations ◽  
Gne Myopathy

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

2016 ◽  
Vol 15 (4) ◽  
pp. 507-512 ◽  
Author(s):  
Henriette Roed Nielsen ◽  
Mef Nilbert ◽  
Janne Petersen ◽  
Steen Ladelund ◽  
Mads Thomassen ◽  
...  
Keyword(s):  
Founder Mutations ◽  
Cancer Risks ◽  
Danish Population ◽  
Brca1 Brca2
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