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.

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.

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.

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.

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

 

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.

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.

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia

Charles A. Galea, Aamira Huq, Paul J. Lockhart, Geneieve Tai, Louise A. Corben, Eppie M. Yiu, Lyle C. Gurrin, David R. Lynch, Sarah Gelbard, Alexandra Durr, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L. Perlman, Martin B. Delatycki and Marguerite V. Evans-Galea; Annals of Neurology Accepted manuscript online: 24 DEC 2015 DOI: 10.1002/ana.24595

This integrated analysis of categorized frataxin mutations and their correlation with clinical outcome provides a definitive resource for investigating disease pathogenesis in FRDA

Diagnosis and management of hypertrophic cardiomyopathy

Antonis Pantazis MD, Annina S Vischer MD, Maria Carrillo Perez-Tome MD and Silvia Castelletti MD;  Echo Res Pract. 2015 Mar 1;2(1):R45-53. doi: 10.1530/ERP-15-0007. Epub 2015 Mar 11.

OPEN ACCESS

Friedreich Ataxia:  Histological features explain that the hypertrophy derives from a striking proliferation of mitochondria within the cardiomyocytes, and a marked loss of contractile fibres. The cardiac involvement is high (more than 60% of patient affected) and usually asymptomatic.

European medical research escapes stifling privacy laws

Alison Abbott. Nature, Breaking News. doi:10.1038/nature.2015.19054 16 December 2015

Proposed legislation had threatened the use of genomic and clinical data in medical studies.