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

Thigh and Leg Muscle MRI Findings in GNE Myopathy

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Vastus Lateralis ◽  
Fatty Infiltration ◽  
Muscular Dystrophies ◽  
Tibialis Posterior ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Fat Infiltration ◽  
Gne Myopathy ◽  
Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.

Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy

2017 ◽  
Vol 27 ◽  
pp. S150
Author(s):  
M. Huizing ◽  
P. Leoyklang ◽  
B. Class ◽  
C. Ciccone ◽  
A. Glowacki ◽  
...  
Keyword(s):  
Response To Therapy ◽  
Gne Myopathy ◽  
Muscle Biopsies

GNE myopathy: Don’t sleep on the platelets

2021 ◽  
Author(s):  
Grayson Beecher ◽  
Teerin Liewluck
Keyword(s):  
Gne Myopathy

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.

NovelGNEcompound heterozygous mutations in a GNE myopathy patient

2013 ◽  
Vol 48 (4) ◽  
pp. 594-598 ◽  
Author(s):  
Huaying Cai ◽  
Ichiro Yabe ◽  
Shinichi Shirai ◽  
Hiroaki Nishimura ◽  
Makoto Hirotani ◽  
...  
Keyword(s):  
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

scholarly journals GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018 ◽  
Vol 15 (4) ◽  
pp. 900-914 ◽  
Author(s):  
Nuria Carrillo ◽  
May C. Malicdan ◽  
Marjan Huizing
Keyword(s):  
Gne Myopathy

scholarly journals GNE myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Gne Myopathy
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