Jupiter, FL (PRWEB) January 12, 2016
Jupiter Orphan Therapeutics, Inc. (JOT) today announced that they have entered into a global development and license agreement with Murdoch Childrens Research Institute, Australia’s largest child health research institute. The agreement will see the parties jointly develop an appropriate delivery system and conduct clinical trials with the purpose of getting a product approved for the treatment of Friedreich’s Ataxia. The product, JOT101, will be a novel proprietary formulation developed by JOT utilising the active ingredient of resveratrol.
Wednesday, January 13, 2016
Indy drug firm Chondrial scores multi-million-dollar help from NIH Indy drug firm scores multi-million-dollar help from NIH
Indianapolis Business Journal, J.K. Wall, January 13, 2016
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Saturday, January 9, 2016
Post-translational modifications in neurodegeneration
Alessandro Didonna, Federico Benetti. AIMS Biophysics, 2016, 3(1): 27-49. doi: 10.3934/biophy.2016.1.27
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
Thursday, January 7, 2016
Epigenetics and Triplet-Repeat Neurological Diseases
Sathiji Nageshwaran and Richard Festenstein, (Review article) Front. Neurol., 21 December 2015 doi: 10.3389/fneur.2015.00262
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
Tuesday, January 5, 2016
Annapurna Therapeutics (formerly AAVLife SAS) to Collaborate with Weill Cornell Medicine on Gene-Therapy Portfolio
PARIS & NEW YORK--(BUSINESS WIRE)--Annapurna Therapeutics today announced a collaboration with Weill Cornell Medicine to build a market-leading gene-therapy company. January 05, 2016
Annapurna, formerly AAVLife SAS, will also continue to fully resource its earlier development of a gene therapy for cardiomyopathy associated with Friedreich’s ataxia. Annapurna is doing observational studies in Friedreich’s ataxia patients to determine appropriate measures for safety and efficacy trials.
Annapurna holds an exclusive worldwide license to a recently issued United States patent covering the use of an AAV vector in gene therapy for cardiomyopathy associated with Friedreich’s ataxia.
Annapurna, formerly AAVLife SAS, will also continue to fully resource its earlier development of a gene therapy for cardiomyopathy associated with Friedreich’s ataxia. Annapurna is doing observational studies in Friedreich’s ataxia patients to determine appropriate measures for safety and efficacy trials.
Annapurna holds an exclusive worldwide license to a recently issued United States patent covering the use of an AAV vector in gene therapy for cardiomyopathy associated with Friedreich’s ataxia.
Monday, January 4, 2016
Using stem cells to battle brain diseases
Esther B. E. Becker, Atlas of Science
Although scientific progress is being made, neurodegenerative diseases remain incurable. Research into these diseases has been hindered by the inaccessibility of the affected nerve cells in the human brain. However, the recent development of induced pluripotent stem cell (iPSC) technology in 2006 has revolutionized the way in which we can study brain disorders.
Of the small number of studies published to date, most have focused on Friedreich’s ataxia (the most common inherited ataxia).
With constant advances in our understanding of the use of chemicals to mimic embryonic differentiation pathways, it is only a matter of time before these models become a reality.
Publication: Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Watson LM, Wong MM, Becker EB., Open Biol. 2015 Jul;5(7):150056. doi: 10.1098/rsob.150056.,
Although scientific progress is being made, neurodegenerative diseases remain incurable. Research into these diseases has been hindered by the inaccessibility of the affected nerve cells in the human brain. However, the recent development of induced pluripotent stem cell (iPSC) technology in 2006 has revolutionized the way in which we can study brain disorders.
Of the small number of studies published to date, most have focused on Friedreich’s ataxia (the most common inherited ataxia).
With constant advances in our understanding of the use of chemicals to mimic embryonic differentiation pathways, it is only a matter of time before these models become a reality.
Publication: Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Watson LM, Wong MM, Becker EB., Open Biol. 2015 Jul;5(7):150056. doi: 10.1098/rsob.150056.,
Sunday, January 3, 2016
2,2′-dipyridyl induces pexophagy
Ai Lin Jin, Joon No Lee, Min Soo Kim, SeongAe Kwak, Se-Jin Kim, Kyung Song, Seong-Kyu Choe, Raekil Park, Biochemical and Biophysical Research Communications, Available online 23 December 2015, ISSN 0006-291X, doi:10.1016/j.bbrc.2015.12.098.
The strictly controlled metabolism of iron is essential, as deficiency or deregulation of iron-related molecules and proteins can cause severe health problems. Friedreich’s ataxia (FRDA) is a common inherited recessive ataxia. Frataxin deficiency causes dysfunction of iron metabolism in mitochondria. A recent report proposed that mitochondrial autophagy (mitophagy) is induced by mitochondrial stress resulting from a defect of iron metabolism-linked reduced frataxin expression.
The strictly controlled metabolism of iron is essential, as deficiency or deregulation of iron-related molecules and proteins can cause severe health problems. Friedreich’s ataxia (FRDA) is a common inherited recessive ataxia. Frataxin deficiency causes dysfunction of iron metabolism in mitochondria. A recent report proposed that mitochondrial autophagy (mitophagy) is induced by mitochondrial stress resulting from a defect of iron metabolism-linked reduced frataxin expression.
Friday, January 1, 2016
Pseudocyst of the auricle in patients with movement disorders: report of two patients with ataxia-associated auricular pseudocysts
Beutler BD, Cohen PR; Dermatol Pract Concept. 2015 Oct 31;5(4):59-64. doi: 10.5826/dpc.0504a15. eCollection 2015.
Pseudocyst of the auricle was observed in two men with neurological disorders: a 33-year-old Asian man with spinocerebellar ataxia and a 47-year-old Caucasian man with Friedreich's ataxia. Patients with neurological disorders, particularly those associated with ataxia and/or dyskinesias, may have an increased risk of developing the traumatic variant of the condition.
Pseudocyst of the auricle was observed in two men with neurological disorders: a 33-year-old Asian man with spinocerebellar ataxia and a 47-year-old Caucasian man with Friedreich's ataxia. Patients with neurological disorders, particularly those associated with ataxia and/or dyskinesias, may have an increased risk of developing the traumatic variant of the condition.
Thursday, December 31, 2015
Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs)
Lorraine H. De Souza & Andrew O. Frank. Disabil Rehabil. 2015 Dec 30:1-10. [Epub ahead of print] DOI:10.3109/09638288.2015.1106599
The complex and diverse clinical problems of those with RDs present unique challenges to the multiprofessional wheelchair team to maintain successful independent mobility and community living. Powered mobility is a major therapeutic tool for those with rare diseases enhancing independence, participation, reducing pain and other clinical features. The challenge for rehabilitation professionals is reconciling the physical disabilities with the individual’s need for function and participation whilst allowing for disease progression and/or growth.
The complex and diverse clinical problems of those with RDs present unique challenges to the multiprofessional wheelchair team to maintain successful independent mobility and community living. Powered mobility is a major therapeutic tool for those with rare diseases enhancing independence, participation, reducing pain and other clinical features. The challenge for rehabilitation professionals is reconciling the physical disabilities with the individual’s need for function and participation whilst allowing for disease progression and/or growth.
Wednesday, December 30, 2015
Identification of potential mitochondrial CLPXP protease interactors and substrates suggests its central role in energy metabolism
Fabian Fischer, Julian D. Langer & Heinz D. Osiewacz; (NATURE) Scientific Reports 5, Article number: 18375 (2015) doi:10.1038/srep18375
OPEN
Among the CLPP-associated pathologies is Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by failed assembly of Fe-S clusters due to defects in the mitochondrial iron chaperone frataxin31. In a FRDA mouse model, the proteolytic component CLPP is upregulated at mid-stage of the disease. This upregulation is concomitant with a loss of mitochondrial Fe-S proteins, indicating they are targets of CLPP in FRDA. Indeed, several proteins we identified in our study contain or bind to Fe-S clusters, e.g. aconitase, biotin synthase, and complex I components such as the NADH-ubiquinone oxidoreductase 75 kDa subunit. In addition, three of the proteins found as CLPXP interactors or substrates, the cysteine desulfurase NSF1, the chaperone HSPA9, and the glutaredoxin-related protein 5, are known to be essential for Fe-S cluster biogenesis in eukaryotic cells including those of mammals. Thus, our findings support the idea that CLPXP has a functional role in FRDA and might possibly be involved in regulating Fe-S cluster assembly and Fe-S cluster proteins.
OPEN
Among the CLPP-associated pathologies is Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by failed assembly of Fe-S clusters due to defects in the mitochondrial iron chaperone frataxin31. In a FRDA mouse model, the proteolytic component CLPP is upregulated at mid-stage of the disease. This upregulation is concomitant with a loss of mitochondrial Fe-S proteins, indicating they are targets of CLPP in FRDA. Indeed, several proteins we identified in our study contain or bind to Fe-S clusters, e.g. aconitase, biotin synthase, and complex I components such as the NADH-ubiquinone oxidoreductase 75 kDa subunit. In addition, three of the proteins found as CLPXP interactors or substrates, the cysteine desulfurase NSF1, the chaperone HSPA9, and the glutaredoxin-related protein 5, are known to be essential for Fe-S cluster biogenesis in eukaryotic cells including those of mammals. Thus, our findings support the idea that CLPXP has a functional role in FRDA and might possibly be involved in regulating Fe-S cluster assembly and Fe-S cluster proteins.
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