Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; for the DPV-Wiss Study Group and the BMBF Competence Network Diabetes.Exp Clin Endocrinol Diabetes. 2012 Mar 22.

 Keywords: genetic syndromes, diabetes mellitus (DM), DPV database, frequency, treatment strategies, long-term complications, paediatric DM patients, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection. Pablo M. Arce, Ruth Goldschmidt, Omar M. Khdour, Manikandadas M. Madathil, Jennifer Jaruvangsanti, Sriloy Dey, David M. Fash, Jeffrey S. Armstrong, Sidney M. Hecht. Bioorganic & Medicinal Chemistry, Available online 14 July 2012. DOI: http://dx.doi.org/10.1016/j.bmc.2012.07.005

Keywords: pyridinol analogues, neuroprotective, idebenone, antioxidants, mitochondrial function, electron transport chain, Reactive oxygen species.

A New And Powerful Class Of Antioxidants Could One Day Be A Potent Treatment For Parkinson's Disease

Georgia Health Sciences University. "A New And Powerful Class Of Antioxidants Could One Day Be A Potent Treatment For Parkinson's Disease." Medical News Today. MediLexicon, Intl., 25 Jul. 2012. Web.

 Acting on the target NRF2 could be also very interesting in the FA

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia. Dey R, Kemp K, Gray E, Rice C, Scolding N, Wilkins A.; Cerebellum. 2012 Jul 24

 Keywords: Friedreich's ataxia (FRDA), Oxidative damage, oxidative stress, frataxin deficiency, bone marrow-derived mesenchymal stem cells (MSCs), superoxide dismutase (1 and 2) enzymes, conditioned medium from human MSCs, nitric oxide-induced oxidative stress, PI(3) kinase/Akt.

Genetic testing in neurology

Genetic testing in neurology. Victoria Harrison, Andrea H. Nemeth; Medicine Volume 40, Issue 8, August 2012, Pages 463–467. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.009

 Keywords: carrier testing, confidentiality, consent, diagnostic testing, genetic testing, neurogenetics, neurology, presymptomatic testing.

Ataxia

Ataxia. Georgina Burke, Simon Hammans. Medicine, Volume 40, Issue 8, August 2012, Pages 435–439. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.004.

Keywords: ataxia, cerebellum, Creutzfeldt–Jakob disease, Friedreich's, multiple sclerosis, paraneoplastic, proprioception, spinocerebellar ataxia.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.V. Foti Cuzzola, R. Ciurleo, S. Giacoppo, S. Marino, P. Bramanti. CNS Neurol Disord Drug Targets. 2011 Nov;10(7):849-62. Keywords: Neurodegenerative diseases, inflammatory mechanism, blood-brain barrier, Resveratrol (RSV), cardio- and neuro-protection, immune regulation, cancer chemoprevention, tumor necrosis factor, cyclooxygenase 2, inducible nitric oxide synthase, interleukins.

European Medicines Agency gives first approval of gene therapy for rare disease

European Medicines Agency recommends first gene therapy for approval. European Medicines Agency, Press release 20/07/2012  

Gene therapy is a great hope for rare diseases of genetic origin, such as Friedreich's ataxia. This is a big step, gene therapy can come out the research laboratories and may be sold by a pharmaceutical laboratory, this authorization would boost the interest of pharmaceutical companies to invest in the development of these therapies.

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Gene, Stem Cell, and Future Therapies for Orphan Disease

State of the Art. Gene, Stem Cell, and Future Therapies for Orphan Disease. M Ian Phillips. Clinical Pharmacology & Therapeutics (2012); 92 2, 182–192. doi:10.1038/clpt.2012.82

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The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes

The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes. Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez, Dionysios Lefkaditis, Fabrice Moore, Jean-Pierre Brion, J Mark Cooper, Anthony HV Schapira, Anne Clark, Arnulf H Koeppen, Piero Marchetti, Massimo Pandolfo, Décio L Eizirik and Françoise Féry.  Annals of Neurology. Accepted manuscript online: 20 JUL 2012. DOI: 10.1002/ana.23698

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disease, frataxin gene, diabetes, insulin resistance, β-cell failure, disposition index, Pancreatic β-cell dysfunction, mitochondrial dysfunction.