Guillaume-Benjamin Duchenne: a miserable life dedicated to science

ABSTRACT Duchenne de Boulogne is known mainly by the disease eponymously named “ Duchenne muscular dystrophy ” , or pseudohypertrophic muscular dystrophy, although some experts consider that the original description of this disease does not belong to him. Less well known are the facts related to the tragic death of his beloved wife shortly after the birth of his only child, the unjustifiable distance he was forced to keep from this son for more than 30 years, and of being humiliated and professionally despised by his peers. These events made the life of this physician, physiologist, researcher and inventor extremely arduous. We emphasize some aspects of the history of this man, his work and his life, a true genius of few friends.RESUMO Duchenne de Boulogne é conhecido por muitos principalmente devido à doença que leva seu nome - doença de Duchenne ou Distrofia Muscular Pseudo-hipertrófica - embora alguns historiadores considerem que a descrição original desta doença não lhe pertence. Menos conhecidos são os fatos relacionados à morte trági ca de sua amada esposa logo após o nascimento de seu filho, o afastamento injusto que foi forçado a manter deste filho único por mais de 30 anos, e ser humilhado e profissionalmente desprezado por seus pares da comunidade neurológica, que em conjunto tornaram a vida desse médico, fisiologista, pesquisador e inve...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research

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Matriglycan [-GlcA- β1,3-Xyl-α1,3-]n serves as a scaffold in many tissues for extracellular matrix proteins containing laminin-G domains including laminin, agrin, and perlecan. Like-acetylglucosaminyltransferase-1 (LARGE1) synthesizes and extends matriglycan on α-dystroglycan (α-DG)during skeletal muscle differentiation and regeneration; however, the mechanisms which regulate matriglycan elongation are unknown. Here, we show thatProtein O-Mannose Kinase (POMK), which phosphorylates mannose of core M3 (GalNac- β1,3-GlcNac-β1,4-Man) preceding matriglycan synthesis, is required for LARGE1-medi...
Source: eLife - Category: Biomedical Science Tags: Biochemistry and Chemical Biology Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by the lack of functional dystrophin protein. In muscular dystrophy preclinical research, it is pertinent to analyze the force of the muscles affected by the disease to assess pathology and potential effectiveness of therapeutic interventions. Although muscles function at sub-maximal levels in vivo, maximal tetanic contractions are most commonly used to assess and report muscle function in muscular dystrophy studies. At submaximal activation, the kinetics of contraction and relaxation are heavily impacted by the kinetics of the single twitch. However, maximal...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Authors: Lamendola P, Lanza GA, Melita V, Villano A, Palermo C, Leone D, Lombardo A, Pennestrì F, Crea F, Mercuri EM, Pane M Abstract OBJECTIVE: Duchenne muscular dystrophy (DMD) is an inherited X-linked recessive neuromuscular disease caused by mutations of the dystrophin gene, leading to early and progressive muscle deterioration and dilated cardiomyopathy. The aim of this investigation was to assess whether treatment with sacubitril/valsartan (S/V) is well tolerated and may have beneficial effects in DMD patients with left ventricle (LV) dysfunction. PATIENTS AND METHODS: We administered S/V to 3 DMD ...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Contributor : Pabodha HettigeSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMuscular dystrophy with myositis (mdm) is a severe degenerative muscle disease arising from a spontaneous mutaton at the N2A-PEVK junction of titin protein. The affected mice show a complex disease phenotype, and more organism-wide spread response compared to other myopathies. The project objectives forcus on undertanding the response pattetern of different skelelal muscles to mdm.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
irginia Arechavala-Gomeza Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological CTG repeats result in protein trapping by expanded transcripts, a decreased DMPK translation and the disruption of the chromatin structure, affecting neighboring genes expression. The muscleblind-like (MBNL) and CUG-BP and ETR-3-like factors (CELF) are two families of tissue-specific regulators of developmentally programmed alternative spli...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
This report covers the initial 24-week trial and the first 12 months of the VBP15-LTE trial (total treatment period 18 months). DMD trial participants (males, 4 to
Source: PLoS Medicine - Category: Internal Medicine Authors: Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 4000-6000 boys, making it the most common form of muscular dystrophy [1]. Mutations in the DMD gene cause loss of the protein dystrophin, which normally buttresses the muscle cell membrane. Resulting membrane instability leads to repeated cycles of skeletal and cardiac myofiber necrosis and regeneration, with muscle being replaced over time by connective tissue and fat [2]. Muscles required for ventilation are severely affected, with marked changes in the diaphragm [3].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
PMID: 32929712 [PubMed - in process]
Source: Cardiology Journal - Category: Cardiology Authors: Tags: Cardiol J Source Type: research
Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by mutations in the dystrophin gene. Loss of dystrophin prevents the formation of a critical connection between the muscle cell membran...
Source: Skeletal Muscle - Category: Research Authors: Tags: Research Source Type: research
Growing evidence demonstrates a continuous interaction between the immune system and the skeletal muscle in inflammatory diseases of different pathogenetic origins, in dystrophic conditions such as Duchenne Muscular Dystrophy as well as during normal muscle regeneration. Although one component of the innate immunity, the macrophage, has been extensively studied both in disease conditions and during cell or gene therapy strategies aiming at restoring muscular functions, much less is known about dendritic cells and their primary immunological targets, the T lymphocytes. This review will focus on the dendritic cells and T lym...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
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