Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba

Hirano, Michio; Cleary, Joseph M.; Stewart, A.; Lincoff, Norah S.; Odel, Jeffrey G.; Santiesteban, Rosaralis Paneca; Luis, R. Santiago

doi:10.1212/wnl.44.5.843

Cited by 16 publications

(8 citation statements)

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“…Consistent with prior studies, we did not identify primary LHON mtDNA mutations in Cuban patients with the EON [3,16]. Vitamin deficiencies preceding the epidemic neuropathy outbreak in Cuba [17] may have provoked niacin deficiency in epidemic neuropathy patients.…”

Section: Discussionsupporting

confidence: 88%

“…We screened for the presence of the most common primary mtDNA mutations associated with LHON (G11778A, G3460A, T14484C) [3,13]. The concentration of resting venous lactic acid was also measured.…”

Section: Methodsmentioning

confidence: 99%

“…The clinical features of the patients and the demographic characteristics of the epidemic have suggested that all forms of the neuropathy are due to the same process [2]; however, the pathomechanism is still unknown. Investigators have hypothesized that toxic, nutritional and genetic factors contributed to the pathogenesis of this disease perhaps through a deficiency of adenosine triphosphate (ATP) production by mitochondria [3,4]. The mitochondrial theory is based in part upon clinical similarities of the EON to Leber hereditary optic neuropathy (LHON) which include painless subacute vision loss without optic nerve swelling.…”

Section: Introductionmentioning

confidence: 99%

“…Small pilot studies in EON patients have identified mutations in mtDNA associated with LHON in a few EON patients [3,4,8]; however, the rarity of the LHON mutations indicates that they did not contribute significantly as genetic risk factors to the epidemic [9].…”

Section: Introductionmentioning

confidence: 99%

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Biochemical Studies of Patients with Cuban Epidemic Neuropathy

Rodríguez-Hernández

Hirano²,

Naini³

et al. 2001

Ophthalmic Res

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In 1992–1994, a disorder known as the epidemic neuropathy afflicted more than 50,000 Cubans. Three different forms of the illness were identified: epidemic optic neuropathy, peripheral neuropathy and mixed optic and peripheral neuropathy. The causes are still unknown. Skeletal muscle biopsy samples were analyzed by standard histological techniques and by biochemical assays. Elevated activities of citrate synthase, a non-respiratory-chain mitochondrial matrix enzyme, suggested possible mitochondrial proliferation in 7 of the 8 patients. Nicotinamide adenine dinucleotide phosphate (NADP⁺) levels were higher in the patients than in the controls (p = 0.04). Levels of nicotinamide adenine dinucleotide (NAD) and the reduced compounds NADH and NADPH were comparable in patients and controls. Elevations of succinate dehydrogenase and citrate synthase activities and high NADP⁺ levels suggest that alterations of mitochondrial functions may be associated with this disorder.

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Section: Discussionsupporting

confidence: 88%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Biochemical Studies of Patients with Cuban Epidemic Neuropathy

Rodríguez-Hernández

Hirano²,

Naini³

et al. 2001

Ophthalmic Res

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“…Occasionally this has occurred in large populations in the form of an epidemic. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] Tobacco-alcohol amblyopia and epidemic optic neuropathy are similar phenomena with regard to visual manifestations as well as peripheral neuropathy.…”

Section: Introductionmentioning

confidence: 99%

Cuban Epidemic Optic Neuropathy and its Relationship to Toxic and Hereditary Optic Neuropathy

Santiesteban-Freixas¹,

Mendoza‐Santiesteban²,

Columbie-Garbey³

et al. 2010

Seminars in Ophthalmology

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The similarities and differences between toxic/nutritional and hereditary optic neuropathy and the pathophysiologic mechanisms that they have in common are described. This is based on data from the epidemic suffered in Cuba in 1992, which affected the optic nerves of many individuals and the experience of the authors in dealing with various toxic optic neuropathies, as well as Leber's hereditary optic neuropathy.

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African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba

et al. 1995

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Genetic predisposition, particularly specific mitochondrial DNA (mtDNA) backgrounds, has been proposed as a contributing factor in the expression of an epidemic of bilateral optic neuropathy that has affected residents of Cuba since 1991. To substantiate or refute the possibility that specific subsets of mtDNAs could participate in disease expression, we took advantage of the heterogeneous ethnic origin of the Cuban population and the recent identification of a number of mtDNA polymorphisms that appear to be specific for Africans, Native Americans, and Europeans. The screening of both carefully selected people with epidemic neuropathy and control subjects from the Pinar del Rio Province for these polymorphisms revealed that African, Native American, and European mtDNA haplotypes were equally represented among case and control subjects, and suggested that approximately 50% of Cuban mtDNAs originated from Europeans, 46% from Africans, and 4% from Native Americans. These findings demonstrate that mutations arising in specific mtDNAs are unlikely to play a role in the epidemic neuropathy and indicate that analysis of mtDNA haplotypes can be a valuable tool for assessing the relative maternal contribution of Africans, Native Americans, and Europeans in a mixed population.

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Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba

Cited by 16 publications

References 0 publications

Biochemical Studies of Patients with Cuban Epidemic Neuropathy

Biochemical Studies of Patients with Cuban Epidemic Neuropathy

Cuban Epidemic Optic Neuropathy and its Relationship to Toxic and Hereditary Optic Neuropathy

African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba

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