Mitochondrial DNA mutation m.3243A>G is associated with altered mitochondrial function in peripheral blood mononuclear cells, with heteroplasmy levels and with clinical phenotypes-Reference-Cited by-同舟云学术

Mitochondrial DNA mutation m.3243A>G is associated with altered mitochondrial function in peripheral blood mononuclear cells, with heteroplasmy levels and with clinical phenotypes

Published:2019-01-11 Issue:6 Volume:36 Page:776-783
ISSN:0742-3071
Container-title:Diabetic Medicine
language:en
Short-container-title:Diabet. Med.

Author:

Geng X.¹²³,Zhang Y.¹³⁴,Yan J.⁵⁶⁷,Chu C.¹²³,Gao F.¹²³,Jiang Z.¹²³,Zhang X.⁸,Chen Y.⁹,Wei X.¹⁰,Feng Y.¹¹,Lu H.¹²³,Wang C.¹²³^ORCID,Zeng F.⁵⁶⁷,Jia W.¹²³^ORCID

Affiliation:

1. Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai Key Laboratory of Diabetes Shanghai China

2. Department of Endocrinology and Metabolism Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

3. Metabolic Diseases Biobank Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

4. Centre for Translational Medicine Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

5. Shanghai Institute of Medical Genetics Shanghai Children's Hospital Shanghai Jiao Tong University Shanghai China

6. Key Laboratory of Embryo Molecular Biology Shanghai Children's Hospital Shanghai Jiao Tong University Shanghai China

7. Ministry of Health of China and Shanghai Key Laboratory of Embryo and Reproduction Engineering Shanghai Children's Hospital Shanghai Jiao Tong University Shanghai China

8. Department of Neurology Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

9. Department of Ophthalmology Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

10. Department of Diagnostic Radiology Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

11. Department of Otolaryngology Head and Neck Surgery Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dme.13874

Reference39 articles.

1. Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

2. Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study

3. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

4. mt DNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

5. URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

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