Literature DB >> 33129249

Current progress in the therapeutic options for mitochondrial disorders.

E Koňaříková1, A Marković, Z Korandová, J Houštěk, T Mráček.   

Abstract

Mitochondrial disorders manifest enormous genetic and clinical heterogeneity - they can appear at any age, present with various phenotypes affecting any organ, and display any mode of inheritance. What mitochondrial diseases do have in common, is impairment of respiratory chain activity, which is responsible for more than 90% of energy production within cells. While diagnostics of mitochondrial disorders has been accelerated by introducing Next-Generation Sequencing techniques in recent years, the treatment options are still very limited. For many patients only a supportive or symptomatic therapy is available at the moment. However, decades of basic and preclinical research have uncovered potential target points and numerous compounds or interventions are now subjects of clinical trials. In this review, we focus on current and emerging therapeutic approaches towards the treatment of mitochondrial disorders. We focus on small compounds, metabolic interference, such as endurance training or ketogenic diet and also on genomic approaches.

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Year:  2020        PMID: 33129249      PMCID: PMC8549882          DOI: 10.33549/physiolres.934529

Source DB:  PubMed          Journal:  Physiol Res        ISSN: 0862-8408            Impact factor:   1.881


  202 in total

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Journal:  Neurology       Date:  2014-01-22       Impact factor: 9.910

2.  Delivery of mtZFNs into Early Mouse Embryos.

Authors:  Beverly J McCann; Andy Cox; Payam A Gammage; James B Stewart; Magdalena Zernicka-Goetz; Michal Minczuk
Journal:  Methods Mol Biol       Date:  2018

3.  Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.

Authors:  John Zhang; Hui Liu; Shiyu Luo; Zhuo Lu; Alejandro Chávez-Badiola; Zitao Liu; Mingxue Yang; Zaher Merhi; Sherman J Silber; Santiago Munné; Michalis Konstantinidis; Dagan Wells; Jian J Tang; Taosheng Huang
Journal:  Reprod Biomed Online       Date:  2017-04       Impact factor: 3.828

4.  Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.

Authors:  Joanne Trinh; Sophie Imhoff; Marija Dulovic-Mahlow; Krishna Kumar Kandaswamy; Vera Tadic; Jochen Schäfer; Valerija Dobricic; Achim Nolte; Martin Werber; Arndt Rolfs; Alexander Münchau; Christine Klein; Katja Lohmann; Norbert Brüggemann
Journal:  J Neurol       Date:  2019-11-20       Impact factor: 4.849

5.  Defective postreperfusion metabolic recovery directly associates with incident delayed graft function.

Authors:  Leonie G M Wijermars; Alexander F Schaapherder; Dorottya K de Vries; Lars Verschuren; Rob C I Wüst; Sarantos Kostidis; Oleg A Mayboroda; Frans Prins; Jan Ringers; Jörgen Bierau; Jaap A Bakker; Teake Kooistra; Jan H N Lindeman
Journal:  Kidney Int       Date:  2016-05-14       Impact factor: 10.612

Review 6.  Disorders of riboflavin metabolism.

Authors:  Shanti Balasubramaniam; John Christodoulou; Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2019-03-11       Impact factor: 4.982

7.  Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.

Authors:  Prashant Jauhari; Naveen Sankhyan; Sameer Vyas; Pratibha Singhi
Journal:  J Pediatr Neurosci       Date:  2017 Jul-Sep

8.  An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD+ imbalance.

Authors:  Anupam Patgiri; Owen S Skinner; Yusuke Miyazaki; Grigorij Schleifer; Eizo Marutani; Hardik Shah; Rohit Sharma; Russell P Goodman; Tsz-Leung To; Xiaoyan Robert Bao; Fumito Ichinose; Warren M Zapol; Vamsi K Mootha
Journal:  Nat Biotechnol       Date:  2020-01-13       Impact factor: 54.908

Review 9.  Mitochondrial Protein Quality Control Mechanisms.

Authors:  Pooja Jadiya; Dhanendra Tomar
Journal:  Genes (Basel)       Date:  2020-05-18       Impact factor: 4.096

10.  Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies.

Authors:  Simone Porcelli; Mauro Marzorati; Lucia Morandi; Bruno Grassi
Journal:  J Appl Physiol (1985)       Date:  2016-07-21
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  2 in total

1.  Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy.

Authors:  Rebecca Bornstein; Katerina James; Julia Stokes; Kyung Yeon Park; Ernst-Bernhard Kayser; John Snell; Angela Bard; Yihan Chen; Franck Kalume; Simon C Johnson
Journal:  Neurobiol Dis       Date:  2021-12-20       Impact factor: 7.046

2.  Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.

Authors:  Aleksandra Marković; Kateřina Tauchmannová; Miroslava Šimáková; Petr Mlejnek; Vilma Kaplanová; Petr Pecina; Alena Pecinová; František Papoušek; František Liška; Jan Šilhavý; Jana Mikešová; Jan Neckář; Josef Houštěk; Michal Pravenec; Tomáš Mráček
Journal:  Biomedicines       Date:  2022-01-26
  2 in total

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