Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
March-2015 Volume 11 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
March-2015 Volume 11 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

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

  • Authors:
    • Zhiting Chen
    • Zhenhua Zhao
    • Qinyong Ye
    • Ying Chen
    • Xiaodong Pan
    • Bin Sun
    • Huapin Huang
    • An Zheng
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China, Department of Neurology, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China, Department of MR and CT, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China
  • Pages: 1956-1962
    |
    Published online on: November 10, 2014
       https://doi.org/10.3892/mmr.2014.2911
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, 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 Q10, 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 Q10, indicating that Q10 may attenuate the mitochondrial dysfunctions caused by the m.10197 G>A mutation.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Kirby DM, Crawford M, Cleary MA, et al: Respiratory chain complex I deficiency: an under diagnosed energy generation disorder. Neurology. 52:1255–1264. 1999. View Article : Google Scholar : PubMed/NCBI

2 

Distelmaier F, Koopman WJ, van den Heuvel LP, et al: Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 132:833–842. 2009. View Article : Google Scholar : PubMed/NCBI

3 

Morris AA, Leonard JV, Brown GK, et al: Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol. 40:25–30. 1996. View Article : Google Scholar : PubMed/NCBI

4 

Taylor RW, Morris AA, Hutchinson M and Turnbull DM: Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet. 10:141–144. 2002. View Article : Google Scholar : PubMed/NCBI

5 

Leigh D: Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 14:216–221. 1951. View Article : Google Scholar : PubMed/NCBI

6 

Bénit P, Slama A, Cartault F, et al: Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 41:14–17. 2004. View Article : Google Scholar : PubMed/NCBI

7 

Anderson S, Bankier AT, Barrell BG, et al: Sequence and organization of the human mitochondrial genome. Nature. 290:457–465. 1981. View Article : Google Scholar : PubMed/NCBI

8 

Andrews RM, Kubacka I, Chinnery PF, et al: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 23:1471999. View Article : Google Scholar : PubMed/NCBI

9 

Kivisild T, Tolk HV, Parik J, et al: The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol. 19:1737–1751. 2002. View Article : Google Scholar : PubMed/NCBI

10 

Finsterer J: Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 39:223–235. 2008. View Article : Google Scholar : PubMed/NCBI

11 

Sarzi E, Brown MD, Lebon S, et al: A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A. 143:33–41. 2007. View Article : Google Scholar

12 

Chae JH, Lee JS, Kim KJ, et al: A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res. 61:622–624. 2007. View Article : Google Scholar : PubMed/NCBI

13 

Ruiz-Pesini E, Mishmar D, Brandon M, et al: Effects of purifying and adaptive selection on regional variation in human mtDNA. Science. 303:223–226. 2004. View Article : Google Scholar : PubMed/NCBI

14 

White SL, Collins VR, Wolfe R, et al: Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet. 62:474–482. 1999. View Article : Google Scholar

15 

Leshinsky-Silver E, Lev D, Malinger G, et al: Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Mol Genet Metab. 100:65–70. 2010. View Article : Google Scholar : PubMed/NCBI

16 

Hudson G, Carelli V, Spruijt L, et al: Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet. 81:228–233. 2007. View Article : Google Scholar : PubMed/NCBI

17 

Ji Y, Zhang AM, Jia X, et al: Mitochondrial DNA haplogroups M7b1′2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. Am J Hum Genet. 83:760–768. 2008. View Article : Google Scholar : PubMed/NCBI

18 

Hwang S, Kwak SH, Bhak J, et al: Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups. PLoS One. 6:e221162011. View Article : Google Scholar : PubMed/NCBI

19 

Fuku N, Park KS, Yamada Y, et al: Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet. 80:407–415. 2007. View Article : Google Scholar : PubMed/NCBI

20 

Tanaka M, Fuku N, Nishigaki Y, et al: Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes. 56:518–521. 2007. View Article : Google Scholar : PubMed/NCBI

21 

Wang K, Takahashi Y, Gao ZL, et al: Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics. 10:337–345. 2009. View Article : Google Scholar : PubMed/NCBI

22 

Papucci L, Schiavone N, Witort E, et al: Coenzyme Q10 prevents apoptosis by inhibiting mitochondrial depolarization independently of its free radical scavenging property. J Biol Chem. 278:28220–28228. 2003. View Article : Google Scholar : PubMed/NCBI

23 

Ishii N, Senoo-Matsuda N, Miyake K, et al: Coenzyme Q10 can prolong C. elegans lifespan by lowering oxidative stress. Mech Ageing Dev. 125:41–46. 2004. View Article : Google Scholar : PubMed/NCBI

24 

Navas P, Fernandez-Ayala DM, Martin SF, et al: Ceramide-dependent caspase 3 activation is prevented by coenzyme Q from plasma membrane in serum-deprived cells. Free Radic Res. 36:369–374. 2002. View Article : Google Scholar : PubMed/NCBI

25 

Echtay KS, Winkler E and Klingenberg M: Coenzyme Q is an obligatory cofactor for uncoupling protein function. Nature. 408:609–613. 2000. View Article : Google Scholar : PubMed/NCBI

26 

Ostergaard E, Hansen FJ, Sorensen N, et al: Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 130:853–861. 2007. View Article : Google Scholar : PubMed/NCBI

27 

Piao YS, Tang GC, Yang H and Lu DH: Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome. Neuropathology. 26:218–221. 2000. View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Chen Z, Zhao Z, Ye Q, Chen Y, Pan X, Sun B, Huang H and Zheng A: Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. Mol Med Rep 11: 1956-1962, 2015.
APA
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B. ... Zheng, A. (2015). Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. Molecular Medicine Reports, 11, 1956-1962. https://doi.org/10.3892/mmr.2014.2911
MLA
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B., Huang, H., Zheng, A."Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A". Molecular Medicine Reports 11.3 (2015): 1956-1962.
Chicago
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B., Huang, H., Zheng, A."Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A". Molecular Medicine Reports 11, no. 3 (2015): 1956-1962. https://doi.org/10.3892/mmr.2014.2911
Copy and paste a formatted citation
x
Spandidos Publications style
Chen Z, Zhao Z, Ye Q, Chen Y, Pan X, Sun B, Huang H and Zheng A: Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. Mol Med Rep 11: 1956-1962, 2015.
APA
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B. ... Zheng, A. (2015). Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. Molecular Medicine Reports, 11, 1956-1962. https://doi.org/10.3892/mmr.2014.2911
MLA
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B., Huang, H., Zheng, A."Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A". Molecular Medicine Reports 11.3 (2015): 1956-1962.
Chicago
Chen, Z., Zhao, Z., Ye, Q., Chen, Y., Pan, X., Sun, B., Huang, H., Zheng, A."Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A". Molecular Medicine Reports 11, no. 3 (2015): 1956-1962. https://doi.org/10.3892/mmr.2014.2911
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team