scholarly journals Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy

Biology Open ◽  
2016 ◽  
Vol 5 (11) ◽  
pp. 1691-1696 ◽  
Author(s):  
Bodvaël Fraysse ◽  
Pascale Guicheney ◽  
Marc Bitoun
Keyword(s):  
Mouse Model ◽  
Calcium Homeostasis ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Anaïs Fongy ◽  
Sestina Falcone ◽  
Jeanne Lainé ◽  
Bernard Prudhon ◽  
Aurea Martins-Bach ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mouse Model ◽  
Centronuclear Myopathy ◽  
Dynamin 2

Non-invasive NMR study of the mouse model for centronuclear myopathy with mutation in the dynamin-2 gene

2015 ◽  
Vol 25 ◽  
pp. S275 ◽  
Author(s):  
A. Martins Bach ◽  
B. Matot ◽  
C. Wary ◽  
M. Bitoun ◽  
M. Vaizof ◽  
...  
Keyword(s):  
Mouse Model ◽  
Centronuclear Myopathy ◽  
Non Invasive ◽  
Nmr Study ◽  
Dynamin 2

Phenotype characterization in patients with dynamin 2 related centronuclear myopathy

2010 ◽  
Vol 41 (01) ◽  
Author(s):  
F Hanisch ◽  
A Dietz ◽  
T Grimm ◽  
M Bitoun ◽  
S Zierz
Keyword(s):  
Centronuclear Myopathy ◽  
Phenotype Characterization ◽  
Dynamin 2

scholarly journals Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy

2020 ◽  
Vol 29 (8) ◽  
pp. 1253-1273
Author(s):  
Jorge A Pereira ◽  
Joanne Gerber ◽  
Monica Ghidinelli ◽  
Daniel Gerber ◽  
Luigi Tortola ◽  
...  
Keyword(s):  
Mouse Model ◽  
Treatment Strategies ◽  
Underlying Disease ◽  
Potential Treatment ◽  
Type B ◽  
Disease Mechanism ◽  
Demyelinating Neuropathy ◽  
Charcot Marie Tooth ◽  
Dynamin 2

Abstract Some mutations affecting dynamin 2 (DNM2) can cause dominantly inherited Charcot–Marie–Tooth (CMT) neuropathy. Here, we describe the analysis of mice carrying the DNM2 K562E mutation which has been associated with dominant-intermediate CMT type B (CMTDIB). Contrary to our expectations, heterozygous DNM2 K562E mutant mice did not develop definitive signs of an axonal or demyelinating neuropathy. Rather, we found a primary myopathy-like phenotype in these mice. A likely interpretation of these results is that the lack of a neuropathy in this mouse model has allowed the unmasking of a primary myopathy due to the DNM2 K562E mutation which might be overshadowed by the neuropathy in humans. Consequently, we hypothesize that a primary myopathy may also contribute to the disease mechanism in some CMTDIB patients. We propose that these findings should be considered in the evaluation of patients, the determination of the underlying disease processes and the development of tailored potential treatment strategies.

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

2015 ◽  
Vol 25 (4) ◽  
pp. 345-348 ◽  
Author(s):  
Olivera Casar-Borota ◽  
Johan Jacobsson ◽  
Rolf Libelius ◽  
Carola Hedberg Oldfors ◽  
Edoardo Malfatti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

2020 ◽  
Vol 133 (24) ◽  
pp. 3023-3024
Author(s):  
Xiao Huang ◽  
Xiang-Yi Liu ◽  
Lu Chen ◽  
A-Ping Sun ◽  
Ying-Shuang Zhang ◽  
...  
Keyword(s):  
De Novo ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Paradoxical neuronal hyperexcitability in a mouse model of mitochondrial pyruvate import deficiency

2020 ◽  
Author(s):  
Andres De la Rossa ◽  
Marine H. Laporte ◽  
Simone Astori ◽  
Thomas Marissal ◽  
Sylvie Montessuit ◽  
...  
Keyword(s):  
Mouse Model ◽  
Oxidative Phosphorylation ◽  
Calcium Homeostasis ◽  
Ketone Bodies ◽  
Synaptic Activity ◽  
Channel Activity ◽  
Energy Status ◽  
Neuronal Hyperexcitability ◽  
Neuronal Excitation ◽  
Mitochondrial Pyruvate Carrier

AbstractA large number of neuropathologies, including cerebral ischemia and diverse mitochondriopathies, in which neurons experience a deficit in oxidative phosphorylation, and consequently in ATP, are frequently accompanied by severe seizures. This observation is paradoxical given that neuronal excitation imposes a high demand of ATP in neurons. The mechanisms underlying neuronal hyperexcitation in these pathologies remains unclear. Most of the ATP synthesized in neurons derives primarily from pyruvate-mediated oxidative phosphorylation, a process that relies on import of pyruvate into mitochondria occuring exclusively via the mitochondrial pyruvate carrier. To address the question of how neurons can be hyperexcitable with reduced levels of ATP, we generated mice in which the mitochondrial pyruvate carrier was genetically inactivated in adult glutamatergic neurons. We found that, despite decreased levels of oxidative phosphorylation in these excitatory neurons, mice were normal at rest. In response to mild inhibition of GABA mediated synaptic activity they rapidly developed severe seizures and died, whereas under similar conditions the behaviour of control mice remained unchanged. We show that neurons with a deficient mitochondrial pyruvate carrier are intrinsically hyperexcitable as a consequence of impaired calcium homeostasis, which reduces M-type potassium channel activity. Provision of ketone bodies restores energy status, calcium homeostasis and M-channel activity and attenuates seizures in animals fed a ketogenic diet.One Sentence SummaryDecreased OXPHOS and Ca2+-mediated neuronal hyperexcitability lead to seizure in a mouse model of mitochondrial pyruvate import deficiency.

C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 881-882 ◽  
Author(s):  
L. Pirra ◽  
A. Dubrovsky ◽  
M. Bitoun ◽  
P. Guicheney ◽  
N. Romero ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Mutations Associated with Centronuclear Myopathy (CNM) Enhance the Size and Stability of Dynamin 2 Clusters in Cells

2013 ◽  
Vol 104 (2) ◽  
pp. 618a
Author(s):  
Nicholas G. James ◽  
Michelle A. Digman ◽  
Justin A. Ross ◽  
Barbara Barylko ◽  
Lei Wang ◽  
...  
Keyword(s):  
Centronuclear Myopathy ◽  
Dynamin 2 ◽  
In Cells

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

2012 ◽  
Vol 114 (6) ◽  
pp. 678-683 ◽  
Author(s):  
Madoka Mori-Yoshimura ◽  
Aya Okuma ◽  
Yasushi Oya ◽  
Chieko Fujimura-Kiyono ◽  
Hideto Nakajima ◽  
...  
Keyword(s):  
Clinicopathological Features ◽  
Centronuclear Myopathy ◽  
Dynamin 2
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