Liande Li, Masayuki Matsui & David R. Corey; Nature Communications 7, Article number: 10606 doi:10.1038/ncomms10606
Iintroducing anti-GAA duplex RNAs or single-stranded locked nucleic acids into patient-derived cells increases FXN protein expression to levels similar to analogous wild-type cells. Synthetic nucleic acids that target GAA repeats can be lead compounds for restoring curative FXN levels.
Saturday, February 6, 2016
Wednesday, February 3, 2016
Pluripotent stem cells in disease modelling and drug discovery
Yishai Avior, Ido Sagi & Nissim Benvenisty; Nature Reviews Molecular Cell Biology (2016) doi:10.1038/nrm.2015.27 Published online 28 January 2016
The ability to model human diseases using cultured PSCs has revolutionized the ways in which we study monogenic, complex and epigenetic disorders, as well as early- and late-onset diseases. Despite the promising future of PSC-based therapies, there are still substantial hurdles between its potential and its fulfilment. In the future, we expect to have repositories of PSCs that will enable the modelling of practically any genetic disease.
Examples of drug screening in Friedreich's ataxia using patient-derived induced pluripotent stem cell models: Forskolin and RG2833
The ability to model human diseases using cultured PSCs has revolutionized the ways in which we study monogenic, complex and epigenetic disorders, as well as early- and late-onset diseases. Despite the promising future of PSC-based therapies, there are still substantial hurdles between its potential and its fulfilment. In the future, we expect to have repositories of PSCs that will enable the modelling of practically any genetic disease.
Examples of drug screening in Friedreich's ataxia using patient-derived induced pluripotent stem cell models: Forskolin and RG2833
Tuesday, February 2, 2016
Menlo Park biotech buys French company, Annapurna Therapeutics
Silicon Valley Bussiness Journal, Feb 1, 2016, Cromwell Schubarth, TechFlash Editor Silicon Valley Business Journal
Avalanche Biotechnologies has agreed to acquire Paris-based Annapurna Therapeutics in a $105.6 million deal that expands its gene therapy pipeline. The Menlo Park company led by Paul Cleveland said the deal will combine his company's four gene therapy programs for ophthalmic diseases with Annapurna’s gene therapies for Alpha1-antitrypsin (A1AT) deficiency, cardiomyopathy associated with Friedreich’s ataxia, hereditary angioedema, and severe allergies.
Related news (January 5,2016): Annapurna Therapeutics (formerly AAVLife SAS) to Collaborate with Weill Cornell Medicine on Gene-Therapy Portfolio
Avalanche Biotechnologies has agreed to acquire Paris-based Annapurna Therapeutics in a $105.6 million deal that expands its gene therapy pipeline. The Menlo Park company led by Paul Cleveland said the deal will combine his company's four gene therapy programs for ophthalmic diseases with Annapurna’s gene therapies for Alpha1-antitrypsin (A1AT) deficiency, cardiomyopathy associated with Friedreich’s ataxia, hereditary angioedema, and severe allergies.
Related news (January 5,2016): Annapurna Therapeutics (formerly AAVLife SAS) to Collaborate with Weill Cornell Medicine on Gene-Therapy Portfolio
Monday, February 1, 2016
Cth2 Protein Mediates Early Adaptation of Yeast Cells to Oxidative Stress Conditions
Castells-Roca L, Pijuan J, Ferrezuelo F, Bellí G, Herrero E (2016). PLoS ONE 11(1): e0148204. doi:10.1371/journal.pone.0148204
Open Access
Cellular responses to environmental stresses involve changes in RNA transcript levels, through the modulation of the kinetics of transcription and decay rates of individual mRNA molecules.
Open Access
Cellular responses to environmental stresses involve changes in RNA transcript levels, through the modulation of the kinetics of transcription and decay rates of individual mRNA molecules.
Sunday, January 31, 2016
PATENT: METHODS AND PHARMACEUTICAL COMPOSITION FOR THE TREATMENT AND THE PREVENTION OF CARDIOMYOPATHY DUE TO ENERGY FAILURE
Bibliographic data: US2016024526 (A1) ― 2016-01-28
Inventor(s): PUCCIO HELENE MONIQUE [FR]; AUBORG PATRICK [FR]; CRYSTAL RONALD G [US]; BOUGNERES PIERRE [FR]
Applicant(s): APHP ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS [FR]; UNIV CORNELL [US]; INST NAT SANTE RECH MED [FR]; CENTRE NAT RECH SCIENT [FR]; UNIV STRASBOURG [FR]; UNIVERSITÉ PARIS SUD XI [FR]
The invention relates to a method for preventing or treating a cardiomyopathy associated with Friedreich ataxia in a subject in need thereof, comprising administering to said subject a therapeutically effective amount of a vector which comprises a frataxin (FXN) encoding nucleic acid.
Inventor(s): PUCCIO HELENE MONIQUE [FR]; AUBORG PATRICK [FR]; CRYSTAL RONALD G [US]; BOUGNERES PIERRE [FR]
Applicant(s): APHP ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS [FR]; UNIV CORNELL [US]; INST NAT SANTE RECH MED [FR]; CENTRE NAT RECH SCIENT [FR]; UNIV STRASBOURG [FR]; UNIVERSITÉ PARIS SUD XI [FR]
The invention relates to a method for preventing or treating a cardiomyopathy associated with Friedreich ataxia in a subject in need thereof, comprising administering to said subject a therapeutically effective amount of a vector which comprises a frataxin (FXN) encoding nucleic acid.
Saturday, January 30, 2016
Role of iron in neurodegenerative diseases
Kai Li, Heinz Reichmann; Neurology and Preclinical Neurological Studies - Review Article, Journal of Neural Transmission pp 1-11 First online: 21 January 2016 DOI: 10.1007/s00702-016-1508-7
This review summarize recent developments on iron dyshomeostasis in Parkinson’s disease, Alzheimer’s disease, Friedreich ataxia, and Huntington’s disease.
This review summarize recent developments on iron dyshomeostasis in Parkinson’s disease, Alzheimer’s disease, Friedreich ataxia, and Huntington’s disease.
Friday, January 29, 2016
The diagnostic value of saccades in movement disorder patients: a practical guide and review
Pichet Termsarasab, Thananan Thammongkolchai, Janet C. Rucker and Steven J. Frucht; Journal of Clinical Movement Disorders 2015 2:14 DOI: 10.1186/s40734-015-0025-4
OPEN ACCESS
Saccades may be very useful diagnostically in recessive forms of cerebellar ataxia. In Friedreich’s ataxia, prominent fixation instability may take the form of macrosaccadic oscillations or nearly continuous square wave jerks, while interestingly cerebellar atrophy is not seen until the very late stages of the illness.
OPEN ACCESS
Saccades may be very useful diagnostically in recessive forms of cerebellar ataxia. In Friedreich’s ataxia, prominent fixation instability may take the form of macrosaccadic oscillations or nearly continuous square wave jerks, while interestingly cerebellar atrophy is not seen until the very late stages of the illness.
Thursday, January 28, 2016
Nrf2 activation in the treatment of neurodegenerative diseases: a focus on its role in mitochondrial bioenergetics and function
Noemí Esteras, Albena T. Dinkova-Kostova, Andrey Y. Abramov; Biological Chemistry. ISSN (Online) 1437-4315, ISSN (Print) 1431-6730, DOI: 10.1515/hsz-2015-0295, January 2016
Currently, REATA Pharmaceuticals has initiated a clinical trial with a novel Nrf2 activator, named RTA 408, for the treatment of Friedreich’s ataxia (ClinicalTrials.gov, NCT02255435). This neurodegenerative disease is caused by deficiency of the protein frataxin, which causes the disruption of iron-sulphur cluster biosynthesis, mitochondrial iron overload and an increased sensitivity to oxidative stress, mainly due to a decrease in the expression of Nrf2.
Currently, REATA Pharmaceuticals has initiated a clinical trial with a novel Nrf2 activator, named RTA 408, for the treatment of Friedreich’s ataxia (ClinicalTrials.gov, NCT02255435). This neurodegenerative disease is caused by deficiency of the protein frataxin, which causes the disruption of iron-sulphur cluster biosynthesis, mitochondrial iron overload and an increased sensitivity to oxidative stress, mainly due to a decrease in the expression of Nrf2.
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