Current strategies for the biochemical diagnosis and monitoring of mitochondrial disease / / edited by Iain Hargreaves

• Record Nr.: UNINA9910765830903321
• Pubbl/distr/stampa: Basel, Switzerland : , : MDPI, , [2018]; ©2018
• ISBN: 3-03897-241-X
• Descrizione fisica: 1 online resource (238 pages) : illustrations
• Disciplina: 616.07
• Soggetti: Mitochondrial pathology
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Nota di bibliografia: Includes bibliographical references.
• Nota di contenuto: About the Special Issue Editor vii -- Iain P. Hargreaves Biochemical Assessment and Monitoring of Mitochondrial Disease Reprinted from: J. Clin. Med. 2018, 7, 66, doi: 10.3390/jcm7040066 1 -- Iain Hargreaves, Nimesh Mody, John Land and Simon Heales Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment Reprinted from: J. Clin. Med. 2018, 7, 36, doi: 10.3390/jcm7020036 4 -- Arun Ghose, Christopher M. Taylor, Alexander J. Howie, Anapurna Chalasani, Iain Hargreaves and David V. Milford Measurement of Respiratory Chain Enzyme Activity in Human Renal Biopsy Specimens Reprinted from: J. Clin. Med. 2017, 6, 90, doi: 10.3390/jcm6090090 10 -- Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, Monika Hofer, Thomas Agnew, Geralrine Quaghebeur, Kate Sergeant, Carl Fratter, Nishan Guha, Mehdi Mirzazadeh and Joanna Poulton Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice Reprinted from: J. Clin. Med. 2017, 6, 80, doi: 10.3390/jcm6080080 16 -- Paule B´enit, Dominique Chr´etien, Mathieu Porceddu, Constantin Yanicostas, Malgorzata Rak and Pierre Rustin An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement Reprinted from: J. Clin. Med. 2017, 6, 58, doi: 10.3390/jcm6060058 30 -- Corinne Alban, Elena Fatale, Abed Joulani, Polina Ilin and Ann Saada The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A ; Retrospective Study Reprinted from: J. Clin. Med. 2017, 6, 31, doi: 10.3390/jcm6030031 40 -- Luc´ıa G ´omez-Tatay, Jos ´e M. Hern´andez-Andreu and Justo Aznar Mitochondrial Modification Techniques and Ethical Issues Reprinted from: J. Clin. Med. 2017, 6, 25, doi: 10.3390/jcm6030025 49 -- Leanna M. Delhey, Ekim Nur Kilinc, Li Yin, John C. Slattery, Marie L. Tippett, Shannon Rose, Sirish C. Bennuri, Stephen G. Kahler, Shirish Damle, Agustin Legido, Michael J. Goldenthal and Richard E. Frye The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder Reprinted from: J. Clin. Med. 2017, 6, 18, doi: 10.3390/jcm6020018 65 -- Josef Finsterer and Sinda Zarrouk-Mahjoub Biomarkers for Detecting Mitochondrial Disorders Reprinted from: J. Clin. Med. 2018, 7, 16, doi: 10.3390/jcm7020016 77 -- Mesfer Al Shahrani, Simon Heales, Iain Hargreaves and Michael Orford Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease Reprinted from: J. Clin. Med. 2017, 6, 100, doi: 10.3390/jcm6110100 . 86 -- Radha Ramachandran and Anthony S. Wierzbicki Statins, Muscle Disease and Mitochondria Reprinted from: J. Clin. Med. 2017, 6, 75, doi: 10.3390/jcm6080075 103 -- Karolina M. Stepien, Robert Heaton, Scott Rankin, Alex Murphy, James Bentley, Darren Sexton and Iain P. Hargreaves Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders Reprinted from: J. Clin. Med. 2017, 6, 71, doi: 10.3390/jcm6070071 116 -- Rahul Phadke Myopathology of Adult and Paediatric Mitochondrial Diseases Reprinted from: J. Clin. Med. 2017, 6, 64, doi: 10.3390/jcm6070064 141 -- Eleni Paleologou, Naila Ismayilova and Maria Kinali Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders Reprinted from: J. Clin. Med. 2017, 6, 56, doi: 10.3390/jcm6060056 165 -- Tamilarasan Udhayabanu, Andreea Manole, Mohan Rajeshwari, Perumal Varalakshmi, Henry Houlden and Balasubramaniem Ashokkumar Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases Reprinted from: J. Clin. Med. 2017, 6, 52, doi: 10.3390/jcm6050052 179 -- Gregory M. Enns and Tina M. Cowan Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy Reprinted from: J. Clin. Med. 2017, 6, 50, doi: 10.3390/jcm6050050 192 -- Delia Yubero, George Allen, Rafael Artuch and Raquel Montero The Value of Coenzyme Q10 Determination in Mitochondrial Patients Reprinted from: J. Clin. Med. 2017, 6, 37, doi: 10.3390/jcm6040037 209 -- Juan Carlos Rodr´ıguez-Aguilera, Ana Bel ´en Cort´es, Daniel J. M. Fern ´andez-Ayala and Pl ´acido Navas Biochemical Assessment of Coenzyme Q10 Deficiency Reprinted from: J. Clin. Med. 2017, 6, 27, doi: 10.3390/jcm6030027 219.
• Sommario/riassunto: Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may ; contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention.