Deletion of Blood Mitochondrial Dna in Pancytopenia

Rötig, Agnès; Colonna, M; Blanche, Stéphane; Fischer, Alain; Deist, Françoise Le; Frézal, J; Saudubray, Jean‐Marie; Münnich, Arnold

doi:10.1016/s0140-6736(88)92687-6

Cited by 51 publications

(12 citation statements)

References 3 publications

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“…(8,19) reported a large-scale deletion of mtDNA in a patient with Pearson's syndrome. In recent studies, several mutations of mtDNA associated with neuromuscular disorders have been reported.…”

Section: Discussionmentioning

confidence: 99%

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Molecular and Genetic Analyses of Two Patients with Pearson's Marrow-Pancreas Syndrome

et al. 1993

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Section: Discussionmentioning

confidence: 99%

“…Rotig et al (8) reported a large-scale deletion of mtDNA in a patient with Pearson's syndrome. Large-scale deletions of human mtDNA have also been reported in the muscle tissues from patients with CPEO including KSS (9-1 1).…”

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confidence: 99%

Molecular and Genetic Analyses of Two Patients with Pearson's Marrow-Pancreas Syndrome

et al. 1993

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“…MtDNA rearrangement syndromes are invariably heteroplasmic, and can result in phenotypes of different severities depending on the distribution and of the deleted mtDNA and its percentage in each cell type. The most severe mtDNA rearrangement disease is the Pearson marrow/pancreas syndrome (Rotig et al 1988). These patients develop pancytopenia early in life and become transfusion-dependent (Kapsa et al 1994).…”

Section: Mtdna Diseasesmentioning

confidence: 99%

The pathophysiology of mitochondrial disease as modeled in the mouse

Wallace¹,

Fan²

2009

Genes Dev.

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It is now clear that mitochondrial defects are associated with a plethora of clinical phenotypes in man and mouse. This is the result of the mitochondria's central role in energy production, reactive oxygen species (ROS) biology, and apoptosis, and because the mitochondrial genome consists of roughly 1500 genes distributed across the maternal mitochondrial DNA (mtDNA) and the Mendelian nuclear DNA (nDNA). While numerous pathogenic mutations in both mtDNA and nDNA mitochondrial genes have been identified in the past 21 years, the causal role of mitochondrial dysfunction in the common metabolic and degenerative diseases, cancer, and aging is still debated. However, the development of mice harboring mitochondrial gene mutations is permitting demonstration of the direct cause-and-effect relationship between mitochondrial dysfunction and disease. Mutations in nDNA-encoded mitochondrial genes involved in energy metabolism, antioxidant defenses, apoptosis via the mitochondrial permeability transition pore (mtPTP), mitochondrial fusion, and mtDNA biogenesis have already demonstrated the phenotypic importance of mitochondrial defects. These studies are being expanded by the recent development of procedures for introducing mtDNA mutations into the mouse. These studies are providing direct proof that mtDNA mutations are sufficient by themselves to generate major clinical phenotypes. As more different mtDNA types and mtDNA gene mutations are introduced into various mouse nDNA backgrounds, the potential functional role of mtDNA variation in permitting humans and mammals to adapt to different environments and in determining their predisposition to a wide array of diseases should be definitively demonstrated.

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“…Rearrangements of mtDNA cause Pearson's marrow-pancreas syndrome. This is a congenital mitochondrial cytopathy, which clinically presents as sideroblastic anemia (7). The same dysplastic changes of the bone marrow including ringed sideroblasts (8,9) can also be observed in refractory anemia with ring sideroblasts belonging to myelodysplastic syndromes (MDS).…”

Section: Introductionmentioning

confidence: 98%