Mitochondrial DNA Medicine
@article{Dimauro2007MitochondrialDM, title={Mitochondrial DNA Medicine}, author={Salvatore Dimauro}, journal={Bioscience Reports}, year={2007}, volume={27}, pages={5-9} }
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 15 years into the era of ‘mitochondrial medicine’, over 150 pathogenic point mutations and countless rearrangements have been associated with a variety of multisystemic or tissue-specific human diseases. MtDNA-related disorders can be divided into two major groups: those due to mutations in genes affecting mitochondrial protein synthesis in toto and those due to mutations in specific…
47 Citations
Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients’ Brain in a Dish
- BiologyFrontiers in Genetics
- 2020
It is hypothesize that iNs will be helpful for mitochondrial disease modeling, since they could mimic patient’s neuron pathophysiology and give the opportunity to correct the alterations in one of the most affected cellular types in these disorders.
Minisequencing mitochondrial DNA pathogenic mutations
- BiologyBMC Medical Genetics
- 2007
A minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost and can easily be implemented in standard clinical laboratories.
Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis
- BiologyCell Research
- 2009
The potential molecular mechanisms, mediating the pathogenesis from mtDNA mutations and mitochondrial dysfunction to tumorigenesis are discussed and consequential mitochondrial dysfunction associated with cancer is discussed.
Breast cancer as a mitochondrial disorder (Review).
- BiologyOncology reports
- 2009
The aim of this review is to summarize data on mtDNA mutation involvement in breast cancer and estimate effects of resulting amino acid changes on mitochondrial protein function and critically evaluated and interpreted in the functional context.
Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.
- BiologyBiochimica et biophysica acta. Molecular cell research
- 2019
Clinical spectrum and phenotype-genotype correlations in patients with mitochondrial complex I deficiency
- Medicine, Biology
- 2015
The results of the genotype-phenotype correlation studies including other published cases can be helpful for choosing nuclear encoded candidate genes and thus improve molecular-genetic diagnostics.
Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report
- Biology, Medicine
- 2012
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
- Biology, MedicineInternational journal of molecular sciences
- 2021
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, with very promising results.
RETRACTED ARTICLE: Human mitochondrial genome flaws and risk of cancer
- BiologyMitochondrial DNA
- 2014
It is revealed that increased and altered mtDNA plays a role in the development of cancer but further work is required to establish the functional significance of specific mitochondrial mutations in cancer and disease progression.
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
- Medicine, PsychologyJournal of Inherited Metabolic Disease
- 2014
Mitochondrial disease caused by SLSMDs is clinically heterogeneous, and not all cases conform to a classical mitochondrial syndrome, with anaemia, renal impairment and endocrine disturbance being the most frequent extraneurological features.
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