Mitochondrial DNA Medicine

@article{Dimauro2007MitochondrialDM,
  title={Mitochondrial DNA Medicine},
  author={Salvatore Dimauro},
  journal={Bioscience Reports},
  year={2007},
  volume={27},
  pages={5-9}
}
  • S. Dimauro
  • Published 5 May 2007
  • Biology
  • Bioscience Reports
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… 
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47 Citations
Highly Influential Citations
3
Background Citations
29
Methods Citations
1

47 Citations

Citation Type

Citation Type

Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients’ Brain in a Dish
TLDR
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
TLDR
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
TLDR
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).
TLDR
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.
Clinical spectrum and phenotype-genotype correlations in patients with mitochondrial complex I deficiency
TLDR
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
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
TLDR
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
TLDR
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
TLDR
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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References

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