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

SHOWING 1-10 OF 10 REFERENCES
Genotypes from patients indicate no paternal mitochondrial DNA contribution
TLDR
It is suggested that paternal transmission of mtDNA is rare and should not alter genetic advice to families, and that strict maternal inheritance should not be changed.
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
TLDR
Ten sporadic patients with skeletal muscle‐restricted mtDNA mutations: five harbored mtDNA point mutations in protein‐coding genes and five had single mtDNA deletions, and haplotype analysis and direct sequencing of the hypervariable regions 1 and 2 of the D‐loop were performed.
Paternal inheritance of mitochondrial DNA.
TLDR
A 28-year-old man with lifelong exercise intolerance is diagnosed with a mitochondrial myopathy due to a novel 2-bp mitochondrial DNA deletion in the ND2 gene, which codes for a subunit of enzyme complex I of the mitochondrial respiratory chain.
Mitochondrial respiratory-chain diseases.
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause…
The epidemiology of pathogenic mitochondrial DNA mutations
TLDR
It is demonstrated that pathogenic mtDNA mutations are a common cause of chronic morbidity and have resource implications, particularly for supportive care and genetic counseling.
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
TLDR
The high prevalence of the common MELAS mutation in the adult population suggests that mitochondrial disorders constitute one of the largest diagnostic categories of neurogenetic diseases.
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
TLDR
The first population-based clinical and molecular genetic study of Leber hereditary optic neuropathy in a population of 2,173,800 individuals in the North East of England indicates that LHON is not rare but has a population prevalence similar to autosomally inherited neurological disorders.
Minimum birth prevalence of mitochondrial respiratory chain disorders in children.
TLDR
This retrospective study aimed to determine the minimum birth prevalence of respiratory chain disorders that have onset in childhood, that is the proportion of births that will have onset of symptoms caused by a respiratory chain defect by 16 years of age.
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
TLDR
It is concluded that mitochondrial encephalomyopathies are relatively common neurometabolic disorders in childhood.
Human Coenzyme Q10 Deficiency
TLDR
The availability of genetic testing will allow for a better understanding of the pathogenesis of this disease and early initiation of therapy (even presymptomatically in siblings of patients) in this otherwise life-threatening infantile encephalomyopathy.