Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia

Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia. Darius J. R. Lane, Michael Li‑Hsuan Huang, Samantha Ting, Sutharshani Sivagurunathan and Des R. Richardson; Biochem. J. (2013) 453 (321–336) (Printed in Great Britain) doi:10.1042/BJ20130079

Key words: apoptosis, autophagy, cardiomyopathy, frataxin, Friedreich’s ataxia, integrated stress response.

Low-cost evaluation and real-time feedback of static and dynamic weight bearing asymmetry in patients undergoing in-patient physiotherapy rehabilitation for neurological conditions

Low-cost evaluation and real-time feedback of static and dynamic weight bearing asymmetry in patients undergoing in-patient physiotherapy rehabilitation for neurological conditions. Joanna Foo, Kade Paterson, Gavin Williams and Ross Clark; Journal of NeuroEngineering and Rehabilitation 2013, 10:74 doi:10.1186/1743-0003-10-74

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Weight bearing asymmetry is common in patients with neurological conditions, and recent advances in gaming technology have produced force platforms that are suitable for use in a clinical setting. The aim of this research is to determine whether commercially-available Wii Balance Boards with customized software providing real-time feedback could be used in a clinical setting to evaluate and improve weight-bearing asymmetry in people with various neurological conditions.

Five markers useful for the distinction of canine mammary malignancy

Five markers useful for the distinction of canine mammary malignancy. Karol M Pawlowski, Henryk Maciejewski, Kinga Majchrzak, Izabella Dolka, Jan A Mol, Tomasz Motyl, Magdalena Król. BMC Veterinary Research 2013, 9:138 doi:10.1186/1746-6148-9-138.

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The other selected gene is mipep which is involved in cellular metabolism. The product of this gene performs the final step in processing of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane [17]. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia (FA). The exact function of frataxin is still unclear, however it has been implicated in iron homeostasis, protection from oxidative stress and apoptosis [18]. Conflicting results have been reported regarding the role of frataxin in cellular growth: both frataxin knockdown and frataxin overexpression impair cell growth. Despite the role of frataxin in cancer is unknown, the relation between FA and malignancy has been suggested [19].

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood. Devin Oglesbee, Charles Kroll, Oleksandr Gakh, Eric C. Deutsch, David R. Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern and Grazia Isaya; Clinical Chemistry clinchem.2013.207472 Published July 9, 2013.

Keywords: Friedreich ataxia (FRDA), frataxin (FXN), clinical diagnosis, therapeutic monitoring, population screening, immunoassay for measuring FXN.

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS. Robert Yan, Petr V. Konarev, Clara Iannuzzi, Salvatore Adinolfi, Beatrice Roche, Geoff Kelly, Lea Simon, Stephen R. Martin, Beatrice Py, Frederic Barras, Dmitri I. Svergun, and Annalisa Pastore; J. Biol. Chem. jbc.M113.480327. First Published on July 9, 2013, doi:10.1074/jbc.M113.480327

Keywords: bacterial ISC operon, iron-sulfur cluster biogenesis, desulfurase IscS, ferredoxin, ferredoxin/IscS complex, frataxin.

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress. Cláudio M. Gomes and Renata Santos; Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 487534, 10 pages, 2013. doi:10.1155/2013/487534

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Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction

Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction. Martin St John Sutton, Bonnie Ky, Sean R. Regner, Kim Schadt, Ted Plappert, Jiwei He, Benjamin D'Souza and David R. Lynch; Echocardiography 2013;0:1–8, Article first published online: 9 JUL 2013 | DOI: 10.1111/echo.12287

Keywords: Friedreich ataxia, myocardial strain, speckle tracking echocardiography, left ventricular hypertrophy, heart failure

Genome instability studies could change treatment for cancer and other diseases

Genome instability studies could change treatment for cancer and other diseases. PENN State News, Huck Institutes of the Life Sciences, by Seth Palmer, July 1, 2013

Prior evolutionary studies have indicated that long microsatellites are biased towards a type of mutation known as repeat expansion, which increases the number of times that a DNA sequence is repeated and which is known to cause inherited disorders such as Huntington's Disease, myotonic dystrophy, fragile X syndrome type A, Friedreich's ataxia, and a number of spinocerebellar ataxias.

Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup

Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup . Muthuswamy S, Agarwal S, Dalal AR; Hippokratia 2013, 17(1):38-41

Keywords: Triplet repeat primed-PCR, Friedreich’s ataxia, trinucleotide repeat disorder, genetic counseling, family screening

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Histone deacetylases govern heterochromatin in every phase

Histone deacetylases govern heterochromatin in every phase. Yota Murakami, The EMBO Journal advance online publication 5 July 2013; doi:10.1038/emboj.2013.154; Published online: 5 July 2013

Deacetylation of histone tails has been shown to play a role during heterochromatin formation, but the precise mechanism of action has not been understood. Complementary results presented in two recent articles in The EMBO Journal (Alper et al, 2013; Buscaino et al, 2013) together reveal how histone deacetylases (HDACs) affect the various phases of heterochromatin formation: establishment, maintenance and spreading.