Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

@article{Ware2009InfantileCC,
  title={Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes},
  author={Stephanie M. Ware and Nahed El-Hassan and Stephen G. Kahler and Q Zhang and Y.-W. and Erin M. Miller and Beatrix Wong and Robert L. Spicer and William J. Craigen and Beth A. Kozel and Dorothy K. Grange and Lee-Jun C. Wong},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={46},
  pages={308 - 314}
}
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy. Results: In all four, a novel mitochondrial m.8528T→C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid… 
Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy
TLDR
The m.4395A>G variant was scored as possibly pathogenic and may exert a negative effect on heart function to generate hCMP, a patient with hypertrophic cardiomyopathy.
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth
TLDR
Two siblings with the m.8969G>A mutation are presented with a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability, and show that mtDNA mutations should be taken account also with milder, stable phenotypes.
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
TLDR
The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency, which corroborates the previously described unique phenotype ofTMEM70 deficiency.
A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder
TLDR
A patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness is described, with involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy.
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
Expanding the clinical phenotypes of MT-ATP6 mutations.
TLDR
This gene should be sequenced at least in all those patients suspected of suffering an mtDNA disorder disclosing normal results for histochemical and biochemical analyses of respiratory chain.
Genetic Basis of Mitochondrial Cardiomyopathy
TLDR
An overview of the constantly growing number of mitochondrial cardiac disorders is provided and comment on the current practice in the diagnosis and treatment of patients with mitochondrial cardiomyopathy are commented on, including optimal therapeutic management and long-term monitoring.
Mitochondrial gene mutations in pediatric septic shock
TLDR
This pilot study may provide a potential explanation for the association between mitochondrial dysfunction and septic shock on a genetic basis and provide promising evidence for mitochondrial dysfunction in sepsis and a basis for further large-scale studies.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 29 REFERENCES
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
TLDR
The first pathogenic mutation in the mitochondrial ATP8 gene is described, resulting in an improper assembly and reduced activity of the complex V holoenzyme, which is associated with apical hypertrophic cardiomyopathy and neuropathy in a 16-year-old patient.
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
TLDR
The clinical phenotype of the nt 8993 mtDNA mutation is expanded to include hypertrophic cardiomyopathy and its cause of LS is confirmed to be Leigh syndrome.
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
TLDR
It is proposed that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile liver failure during infancy without notable neurologic dysfunction.
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
TLDR
The first pathogenic mutation in the mitochondrial ATP8 gene is described, resulting in an improper assembly and reduced activity of the complex V holoenzyme, in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder.
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects.
TLDR
The clinical features of cardiac involvement in mitochondrial diseases vary in the different subgroups of these disorders, and particular mitochondrial mutations can cause characteristic cardiac abnormalities.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
TLDR
A novel heteroplasmic 7587T-->C mutation in the mitochondrial genome which changes the initiation codon of the gene encoding cytochrome c oxidase subunit II (COX II), was found in a family with mitochondrial disease and constitutes a new mechanism by which mtDNA mutations can cause disease-defective initiation of translation.
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations
TLDR
There are differences in age at onset, severity of clinical course, outcome, and intrafamilial variability in patients affected of an OXPHOS defect due to nuclear or mtDNA mutations.
Pathogenic mitochondrial DNA mutations in protein‐coding genes
TLDR
This review focuses on mutations in mitochondrial genes that encode proteins that are involved in a broad spectrum of human diseases, including a variety of multisystem disorders as well as more tissue‐specific diseases such as isolated myopathy and Leber hereditary optic neuropathy.
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
...
1
2
3
...