MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). We showed that MFN2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and controlled by PINK1 kinase–mediated phosphorylation of adjacent MFN2 Ser378. Small-molecule mimics of the peptide-peptide interface of MFN2 disrupted this interaction, allosterically activating MFN2 and promoting mitochondrial fusion. These first-in-class mitofusin agonists overcame dominant mitochondrial defects provoked in ...
Source: ScienceNOW - April 19, 2018 Category: Science Authors: Rocha, A. G., Franco, A., Krezel, A. M., Rumsey, J. M., Alberti, J. M., Knight, W. C., Biris, N., Zacharioudakis, E., Janetka, J. W., Baloh, R. H., Kitsis, R. N., Mochly-Rosen, D., Townsend, R. R., Gavathiotis, E., Dorn, G. W. Tags: Cell Biology, Medicine, Diseases reports Source Type: news
TSRI scientists zero in on treatment for Charcot-Marie-Tooth disease
(Scripps Research Institute) Scientists at The Scripps Research Institute (TSRI) have now shown a path to developing treatments for disease subtype CMT2D. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - March 8, 2018 Category: Biology Source Type: news
HDAC6 inhibitors protect against neuronal damage and have therapeutic potential
(VIB (the Flanders Institute for Biotechnology)) Inhibiting HDAC6 improves the structural stability of cells and protects against neuronal damage. Leuven research uncovered that targeting this mechanism could be a promising therapeutic approach for peripheral neuropathies, whether due to Charcot-Marie-Tooth disease (CMT) or as a side effect of chemotherapy. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 8, 2018 Category: International Medicine & Public Health Source Type: news
Cheryl's appeal for friend ’s son suffering from CMT
Fans praised the star, 34, for raising awareness of a Charcot-Marie-Tooth (CMT) disease. She did not identify the pal whose child has the progressive condition that can cause muscle weakness. (Source: the Mail online | Health)
Source: the Mail online | Health - September 25, 2017 Category: Consumer Health News Source Type: news
Charcot-Marie-Tooth disorder: I grew up being told I was lazy and useless
ROSE Brewis was an adult before she discovered she had progressive muscle-wasting disease CMT which affects thousands in the UK. (Source: Daily Express - Health)
Source: Daily Express - Health - September 19, 2017 Category: Consumer Health News Source Type: news
Mother has a rare condition that is making her feet shrink
Sophie Earl-Park, 29, has Charcot-Marie-Tooth disease (CMT), which is defined as a group of disorders that damage the nerves outside the brain and spine. It affects around 25,000 people in the UK. (Source: the Mail online | Health)
Source: the Mail online | Health - August 31, 2017 Category: Consumer Health News Source Type: news
Falkirk son inherits Charcot-Marie-Tooth disease like dad
Andrew Frerich, 51, and son Calum, from Falkirk, Scotland, both live with Charcot-Marie-Tooth disease. His father says Calum 'doesn't realise he has limitations' and hurts himself. (Source: the Mail online | Health)
Source: the Mail online | Health - August 31, 2017 Category: Consumer Health News Source Type: news
Pain and fatigue could be symptoms of THIS incurable neurological condition
CHARCOT-MARIE-TOOTH is a neurological, incurable condition which can cause symptoms including uncontrollable pain and chronic fatigue. (Source: Daily Express - Health)
Source: Daily Express - Health - August 16, 2017 Category: Consumer Health News Source Type: news
Acceleron begins dosing in Phase II trial of ACE-083 to treat CMT
Acceleron Pharma has started dosing patients in a Phase II clinical trial of its therapeutic candidate ACE-083 for the treatment of Charcot-Marie-Tooth disease (CMT) patients. (Source: Drug Development Technology)
Source: Drug Development Technology - August 1, 2017 Category: Pharmaceuticals Source Type: news
3-D prints used to compare effectiveness of top surgical techniques for repairing heel deformity
(Cedars-Sinai Medical Center) Using 3-D models of a patient's foot, investigators at Cedars-Sinai have found that the three leading procedures for treating heel deformities do not adequately correct the debilitating problem. Investigators used 18 identical 3-D prints of a single patient's heel to evaluate the most common techniques for treating Charcot-Marie-Tooth disease (CMT), a genetic neuromuscular disease that kills the long nerves in the hands and feet. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2017 Category: Global & Universal Source Type: news
Pharnext begins Phase III extension trial of PXT3003 to treat type 1A CMT
French biopharmaceutical company Pharnext has begun the Phase III extension trial (PLEO-CMT-FU) of PXT3003 for the treatment of patients with mild-to-moderate charcot-marie-tooth disease type 1A (CMT1A). (Source: Drug Development Technology)
Source: Drug Development Technology - March 20, 2017 Category: Pharmaceuticals Source Type: news
MDA and CMTA fund grant to study gene therapy in charcot-marie-tooth disease
(Charcot-Marie-Tooth Association) The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) March 17 announced a research grant totaling $119,999 to Kleopas Kleopa, M.D., for a study on the effectiveness of a gene therapy approach in CMT1X. In an earlier study, Kleopa and his colleagues showed that a single injection of the gene that is mutated in CMT1X was associated with production of normal protein in nerves and improvement of peripheral nerve health and motor performance. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 17, 2017 Category: Global & Universal Source Type: news
Pharnext completes patient enrolment in Phase lll trial of PXT3003 to treat CMT1A
French biopharmaceutical company Pharnext has completed the enrolment of patients for its new Phase lll PLEO-CMT trial of PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). (Source: Drug Development Technology)
Source: Drug Development Technology - December 21, 2016 Category: Pharmaceuticals Source Type: news
BioPontis Alliance for Rare Diseases and VIB announce partnership on rare diseases
(VIB (the Flanders Institute for Biotechnology)) Today, BioPontis Alliance for Rare Diseases, a unique international nonprofit organization, and VIB, an excellence-based Life Science Research Institute in Belgium, announced a strategic partnership in rare diseases. The first program is aimed at developing a treatment for one type of Charcot Marie Tooth disease (CMT), a rare, progressive and invalidating neuropathy. There are no therapies available for CMT patients today, although it affects 1/2,500 worldwide. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 2, 2016 Category: Biology Source Type: news
NIH grant will fund new JAX Resource for Research of Peripheral Neuropathy
(Jackson Laboratory) The National Institute of Neurological Disorders and Stroke has made a grant to The Jackson Laboratory to develop mouse models for inherited peripheral neuropathies and neurodegenerative diseases including Charcot-Marie-Tooth disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 17, 2016 Category: Global & Universal Source Type: news
