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......
Thursday, January 7, 2016
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.
Tuesday, December 29, 2015
The first therapeutics based on genome-editing tools will treat diseases caused by single genes, but many other factors dictate what is currently possible.
Virginia Gewin, Medicine: Expanding possibilities, Nature 528, S10–S11 (03 December 2015) doi:10.1038/528S10a Published online 02 December 2015
OPEN
OPEN
Monday, December 28, 2015
Treatments for Syndromes of Progressive Ataxia and Weakness Disorders - PMR Market Insight Report to 2020
Persistence Market Research (PMR)
Stringent regulations and standard requires for approval process of new drugs impede growth of the treatments for syndromes of progressive ataxia and weakness disorders market. The approval process takes a very long time to approve a specific drug.
Stringent regulations and standard requires for approval process of new drugs impede growth of the treatments for syndromes of progressive ataxia and weakness disorders market. The approval process takes a very long time to approve a specific drug.
Sunday, December 27, 2015
Burden of mitochondrial DNA variations in Friedreich's Ataxia (FRDA) patients and sharing of mitochondrial lineage with Caucasians
Inder singh, Sunil Sakhya, Madhuri Behari, M.V. Padma Srivastava, Garima Shukla, Vinay Goyal, Achal Kumar Srivastava, Mohd. Faruq, Parkinsonism & Related Disorders, Volume 22, Supplement 2, January 2016, Page e154, ISSN 1353-8020, doi: 10.1016/j.parkreldis.2015.10.360.
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