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Therapy Prospects for Mitochondrial DNA Maintenance Disorders

期刊

出版社

MDPI
DOI: 10.3390/ijms22126447

关键词

mitochondria; mtDNA; replication; depletion; multiple deletions; therapy; nucleoside; gene therapy

资金

  1. Spanish Instituto de Salud Carlos III (E.R.D.F.) [PMP15/00025, PI18/01574]
  2. Catalan Generalitat de Catalunya (PERIS program) [SLT002/16/00370]
  3. Catalan Generalitat de Catalunya (FI-AGAUR program) [2018FI_B_01115]

向作者/读者索取更多资源

MDDS is a group of mitochondrial diseases caused by dysfunctional mtDNA replication, and current treatment options are limited. Advances in understanding the biochemical pathomechanisms have led to new strategies ranging from small molecule enhancement to gene therapy for the treatment of these diseases.
Mitochondrial DNA depletion and multiple deletions syndromes (MDDS) constitute a group of mitochondrial diseases defined by dysfunctional mitochondrial DNA (mtDNA) replication and maintenance. As is the case for many other mitochondrial diseases, the options for the treatment of these disorders are rather limited today. Some aggressive treatments such as liver transplantation or allogeneic stem cell transplantation are among the few available options for patients with some forms of MDDS. However, in recent years, significant advances in our knowledge of the biochemical pathomechanisms accounting for dysfunctional mtDNA replication have been achieved, which has opened new prospects for the treatment of these often fatal diseases. Current strategies under investigation to treat MDDS range from small molecule substrate enhancement approaches to more complex treatments, such as lentiviral or adenoassociated vector-mediated gene therapy. Some of these experimental therapies have already reached the clinical phase with very promising results, however, they are hampered by the fact that these are all rare disorders and so the patient recruitment potential for clinical trials is very limited.

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