Cardiac function - page 2 Scientific Publications

Latest publication 09/06/2017

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe

Pompe disease is a lysosomal storage disorder caused by acid-_-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as...

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    [title] => Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe
    [paragraph] => Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease
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Authors
Hordeaux J1,2,3, Dubreil L1,2, Robveille C1,2, Deniaud J1,2, Pascal Q1,2, Dequéant B1,2, Pailloux J1,2, Lagalice L1,2, Ledevin M1,2, Babarit C1,2, p Costiou, F Jamme, M Fusellier, Y Mallem, C Ciron, C Huchet, C Caillaud, MA Colle

 Lab
Nantes-Atlantic National College of Veterinary Medicine, France
Journal
Acta Neuropathological Communiations
Abstract
Pompe disease is a lysosomal storage disorder caused by acid-_-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year. We demonstrate a significant functional neurologic correction in treated animals from 4 months onward, a neuromuscular improvement from 9 months onward, and a correction of the hypertrophic cardiomyopathy at 12 months. The regions most affected by the disease i.e. the brainstem, spinal cord, and the left cardiac ventricular wall all show enzymatic, biochemical and histological correction. Muscle glycogen storage is not affected by the treatment, thus suggesting that the restoration of muscle functionality is directly related to the CNS correction. This unprecedented global and long-term CNS and cardiac cure offer new perspectives for the management of patients.
BIOSEB Instruments Used
Grip strength test (BIO-GS3)

Keywords/Topics
Other pathologies; Miscellaneous; Cardiac function
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An easy way to objectively quantify the muscular strength of mice and rats, and to assess the effect of drugs, toxins, muscular (i.e. myopathy) and neurodegenerative diseases on muscular degeneration. It is widely used in conjunction with the ROTAROD motor coordination test: a normally coordinated rodent will show a decreased latency to fall off the rotating rod if its muscular strength is low. The Grip Strength Test is a must for your research on activity, motor control & coordination, and is particularly well suited for studies on Parkinson's & Huntington's disease.
New features GS4 - 2023: Color display with permanent backlight screen for easier reading, reset by footswitch, Improved battery time, Larger data memory of 500 values, Animal counter, USB port (charging/data transfer)

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