No association of the 11778 rnitochondrial DNA mutation and multiple sclerosis in Japan

Nishimura, Masataka; Obayashi, Hiroshi; Ohta, Miki; Uchiyama, T.; Hao, Qianqian; Saida, Tsukasa

doi:10.1212/wnl.45.7.1333

Cited by 43 publications

(17 citation statements)

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“…30 Several studies in patients with MS have failed to demonstrate the primary LHON mutations among these. [31][32][33] In conclusion, it would seem that LHON patients have increased risk of an MS-like disease, but that primary LHON mutations do not play a role in the majority of cases of MS.…”

Section: Discussionmentioning

confidence: 88%

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Vestergaard

Rosenberg

Torp‐Pedersen

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients.METHODS. This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population.RESULTS. Having LHON was associated with an almost 2-fold risk of mortality with a rate ratio (RR) of 1.95 (95% confidence interval [CI]: 1.47-2.59; P < 0.001). The incidence of several diseases was increased for LHON patients, but not for family members. The incidence of stroke was 5.73 per 1000 patient-years for LHON patients compared to 2.33 for the general population, and the RR was 2.38 (95% CI: 1.58-3.58; P < 0.001). The incidence of demyelinating disorders was 2.24 compared to 0.21 for the general population; RR was 12.89 (95% CI: 6.70-24.77; P < 0.001). A 4-fold risk of dementia was seen for LHON patients (RR: 4.26, 95% CI: 1.91-9.48; P < 0.001), incidence 1.45 for LHON and 0.37 for the general population. Moreover, LHON patients had an increased risk of epilepsy, atherosclerosis, nerve symptoms, neuropathy, and alcohol-related disorders.CONCLUSIONS. The manifestation of LHON was associated with increased mortality and increased incidence of several disorders including stroke, demyelinating disorder, dementia, and epilepsy.

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Section: Discussionmentioning

confidence: 88%

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Vestergaard

Rosenberg

Torp‐Pedersen

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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“…All three primary LHON mutations have been found to be associated with MS or MS-like syndromes in the European and North American population [2, 3, 4, 5, 6, 7, 8]. However, the only study in Asians reported no association between Japanese MS patients and nt 11778 mtDNA mutations [10]. Except for this single study which tested only for the presence of the nt 11778 mtDNA mutation [10], little information is available on the association of LHON mutation with MS in Asians.…”

Section: Introductionmentioning

confidence: 99%

“…However, the only study in Asians reported no association between Japanese MS patients and nt 11778 mtDNA mutations [10]. Except for this single study which tested only for the presence of the nt 11778 mtDNA mutation [10], little information is available on the association of LHON mutation with MS in Asians. The purpose of the present study was to check for the existence of LHON mtDNA mutations in Korean MS patients suffering from optic neuropathy (ON).…”

Section: Introductionmentioning

confidence: 99%

Leber’s Hereditary Optic Neuropathy Mutations in Korean Patients with Multiple Sclerosis

Hwang

Chang

Park³

2001

Ophthalmologica

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Several different mitochondrial DNA (mtDNA) sites for mutations of Leber’s hereditary optic neuropathy (LHON) have been reported to be present in patients with multiple sclerosis (MS). To further study this association of LHON and MS in the Korean population, we tested 20 MS patients for the presence of mtDNA mutations at nucleotide (nt) 11778 in all 20 patients, and at nt 14484, nt 3460 and nt 15257 in 15, 12 and 12 patients, respectively. However, none of the MS patients exhibited any pathogenic LHON mtDNA mutations. In conclusion, we found no evidence for any association between MS and the LHON mutation in the Korean population.

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“…Hanefeld et al [16]reported that none of 36 children and 30 adults with MS harbored the nt-3460 or nt-11778 mutations, while Nishimura et al [17]noted that of 80 Japanese MS patients screened, none had the nt-11778 mtDNA mutation. Mayr-Wohlfart et al [18]did not find any of the three primary LHON mtDNA mutations in 100 MS patients with ON.…”

Section: Discussionmentioning

confidence: 99%

Leber’s Hereditary Optic Neuropathy Mitochondrial DNA Mutations at Nucleotides 11778 and 3460 in Multiple Sclerosis

Mojon

Herbert²,

Sadiq³

et al. 1999

Ophthalmologica

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Objectives: Leber’s hereditary optic neuropathy (LHON) can be difficult to distinguish from optic neuritis seen in multiple sclerosis (MS). About half of the LHON patients harbor a mutation at nucleotide (nt) 11778 in the mitochondrial (mt) DNA. In addition, mutations at nt-3460 and nt-14484 have been associated with LHON. An association of LHON and MS has been suspected for decades, and, recently, the LHON nt-11778 and nt-3460 mtDNA mutations have been found in several patients with MS or MS-like disease. We attempted to determine which MS patients should be evaluated further for LHON mutations. Methods: We screened 103 clinically definite MS patients (age range from 18 to 72 years, 27 men and 76 women) for the LHON nt-11778 and nt-3460 mtDNA mutations. Results: Neither mutation was identified in the patients. Conclusions: Our findings confirm previous reports which found that both LHON mutations are rare in unselected MS patients. The reports to date suggest that MS patients with peripapillary teleangiectasia typical of LHON, with relatives harboring LHON or with early severe bilateral optic neuropathy, particularly if female, should be further evaluated for LHON mutations.

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No association of the 11778 rnitochondrial DNA mutation and multiple sclerosis in Japan

Cited by 43 publications

References 0 publications

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Leber’s Hereditary Optic Neuropathy Mutations in Korean Patients with Multiple Sclerosis

Leber’s Hereditary Optic Neuropathy Mitochondrial DNA Mutations at Nucleotides 11778 and 3460 in Multiple Sclerosis

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