Marina Mora, Corrado Angelini, Fabrizia Bignami, Anne-Mary Bodin, Marco Crimi, Jeanne- Hélène Di Donato, Alex Felice, Cécile Jaeger, Veronika Karcagi, Yann LeCam, Stephen Lynn, Marija Meznaric, Maurizio Moggio, Lucia Monaco, Luisa Politano, Manuel Posada de la Paz, Safaa Saker, Peter Schneiderat, Monica Ensini, Barbara Garavaglia, David Gurwitz, Diana Johnson, Francesco Muntoni, Jack Puymirat, Mojgan Reza, Thomas Voit, Chiara Baldo, Franca Dagna Bricarelli, Stefano Goldwurm, Giuseppe Merla, Elena Pegoraro, Alessandra Renieri, Kurt Zatlouka, Mirella Filocamo and Hanns Lochmüller; European Journal of Human Genetics (2015) 23, 1116–1123; doi:10.1038/ejhg.2014.272;
In the field of rare diseases (RDs) the number of available biospecimens is, in general, very limited. As a direct consequence of disease rarity, clinical trials are difficult to perform and so a limited number of treatments have been developed, whereas disease prognosis and natural history are poorly known, and patients with RDs do not receive the care and medical attention available to people with common diseases. Sharing material and data on RDs is essential for identifying disease-causing genes, studying pathological mechanisms, and developing treatments.
Wednesday, August 19, 2015
Mitochondrial dynamism and heart disease: changing shape and shaping change
Gerald W Dorn; EMBO Mol Med. 2015 July; 7(7): 865–877. doi: 10.15252/emmm.201404575
A example of heart disease provoked by primary genetic mitochondrial dysfunction is Friedreich's ataxia. This autosomal recessive neurodegenerative disease is caused by triplet nucleotide repeat expansions within the FXN gene, encoding the mitochondrial matrix iron chaperone protein frataxin. In addition to progressive dorsal sensory nerve degeneration and ataxia, hypertrophic cardiomyopathy is seen in a majority of patients; heart failure is the terminal diagnosis in approximately one-third of affected individuals. Cardiac mitochondria in Friedreich's ataxia undergo massive proliferation with decreased ATP production, consistent with functional compromise of the electron transport chain.
A example of heart disease provoked by primary genetic mitochondrial dysfunction is Friedreich's ataxia. This autosomal recessive neurodegenerative disease is caused by triplet nucleotide repeat expansions within the FXN gene, encoding the mitochondrial matrix iron chaperone protein frataxin. In addition to progressive dorsal sensory nerve degeneration and ataxia, hypertrophic cardiomyopathy is seen in a majority of patients; heart failure is the terminal diagnosis in approximately one-third of affected individuals. Cardiac mitochondria in Friedreich's ataxia undergo massive proliferation with decreased ATP production, consistent with functional compromise of the electron transport chain.
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