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Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A
被引:17
作者:

Chen, Zhiting
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Zhao, Zhenhua
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Fujian Med Univ, Fujian Prov Hosp, Dept Neurol, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Ye, Qinyong
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Chen, Ying
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Pan, Xiaodong
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Sun, Bin
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Fujian Med Univ, Union Hosp, Dept MR & CT, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Huang, Huapin
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China

Zheng, An
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Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China
机构:
[1] Fujian Med Univ, Dept Neurol, Union Hosp, Fuzhou 350001, Fujian, Peoples R China
[2] Fujian Med Univ, Fujian Prov Hosp, Dept Neurol, Fuzhou 350001, Fujian, Peoples R China
[3] Fujian Med Univ, Union Hosp, Dept MR & CT, Fuzhou 350001, Fujian, Peoples R China
关键词:
Leigh syndrome;
maternally inherited;
mitochondrial disease;
phenotype;
mutation;
treatment;
COMPLEX-I DEFICIENCY;
MITOCHONDRIAL HAPLOGROUP N9A;
HEREDITARY OPTIC NEUROPATHY;
DNA MUTATION;
DISEASE;
EXPRESSION;
CHILDREN;
SEQUENCE;
MTDNA;
D O I:
10.3892/mmr.2014.2911
中图分类号:
R73 [肿瘤学];
学科分类号:
100214 ;
摘要:
The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthal-moparesis, optic atrophy, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases. In the majority of cases, the disease is fatal and patients die before age 5. Mutation m.10197 G>A was found to relate to the severe phenotype of the Leigh syndrome. Here, we describe the first Chinese Leigh syndrome pedigree with this mutation. The proband had the characteristic brain lesions of the Leigh syndrome and presented a decrease in exercise tolerance and mild face paralysis. Sequencing the NADH dehydrogenase, subunit 3 (ND3) gene in the pedigree, revealed that the proband, as well as her unaffected brother, have a high mutant load in the ND3 gene, compared to their mother. Following one-year treatment with the coenzyme Q(10), an obvious improvement in clinical features was observed by magnetic resonance imaging (MRI) in the proband. Our study and previous reports highlight the variability of phenotypic expression of the m.10197 G>A mutation, and suggest that pathogenesis of the syndrome may be affected by a number of factors. This is the first report on successful treatment of an LS patient carrying the mutation m.10197 G>A with the coenzyme Q(10), indicating that Q(10) may attenuate the mitochondrial dysfunctions caused by the m.10197 G>A mutation.
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页码:1956 / 1962
页数:7
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机构: Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Smeets, Hubert J. T.
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机构: Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Torroni, Antonio
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机构: Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Chinnery, Patrick F.
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机构: Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[10]
Gene Expression Pattern in Transmitochondrial Cytoplasmic Hybrid Cells Harboring Type 2 Diabetes-Associated Mitochondrial DNA Haplogroups
[J].
Hwang, Seungwoo
;
Kwak, Soo Heon
;
Bhak, Jong
;
Kang, Hae Sun
;
Lee, You Ri
;
Koo, Bo Kyung
;
Park, Kyong Soo
;
Lee, Hong Kyu
;
Cho, Young Min
.
PLOS ONE,
2011, 6 (07)

Hwang, Seungwoo
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机构:
Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Kwak, Soo Heon
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Bhak, Jong
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机构:
Theragen BiO Inst, Suwon, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Kang, Hae Sun
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Lee, You Ri
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Koo, Bo Kyung
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Park, Kyong Soo
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Lee, Hong Kyu
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机构:
Eulji Univ, Coll Med, Dept Internal Med, Seoul, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea

Cho, Young Min
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机构:
Seoul Natl Univ, Coll Med, Dept Internal Med, Seoul 151, South Korea Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Taejon, South Korea