Mitochondrial nucleic acid binding proteins associated with diseases

研究成果: ジャーナルへの寄稿評論記事

1 引用 (Scopus)

抄録

Mammalian mitochondrial DNA (mtDNA) exists in structures called nucleoids, which correspond to the configuration of nuclear DNA. Mitochondrial transcription factor A (TFAM), first cloned as an mtDNA transcription factor, is critical for packaging and maintaining mtDNA. To investigate functional aspects of TFAM, we identified many RNA-binding proteins as candidate TFAM interactors, including ERAL1 and p32. In this review, we first describe the functions of TFAM, replication proteins such as polymerase γ and Twinkle, and mitochondrial RNA binding proteins. We describe the role of mitochondrial nucleic acid binding proteins within the mitochondrial matrix and two oxidative phosphorylation related proteins within the mitochondrial intermembrane space. We then discuss how mitochondrial dysfunction is related to several diseases, including mitochondrial respiratory disease, Miller syndrome and cancer. We also describe p32 knockout mice, which are embryonic lethal and exhibit respiratory chain defects. Miller syndrome is a recessive disorder characterized by postaxial acrofacial dysostosis and caused by a mutation in DHODH. Finally, we explain that p32 and mitochondrial creatine kinase may be novel markers for the progression of prostate cancer.

元の言語英語
ページ(範囲)168-179
ページ数12
ジャーナルFrontiers in Bioscience - Landmark
22
発行部数1
DOI
出版物ステータス出版済み - 1 1 2017

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Mitochondrial DNA
Nucleic Acids
Carrier Proteins
RNA-Binding Proteins
Mitochondrial Proteins
Mitochondrial Form Creatine Kinase
Mitochondrial Diseases
Pulmonary diseases
Oxidative Phosphorylation
Product Packaging
Electron Transport
Knockout Mice
Prostatic Neoplasms
Packaging
Proteins
Transcription Factors
Defects
Mutation
DNA
Genee-Wiedemann syndrome

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)

これを引用

Mitochondrial nucleic acid binding proteins associated with diseases. / Uchiumi, Takeshi; Kang, Dongchon.

:: Frontiers in Bioscience - Landmark, 巻 22, 番号 1, 01.01.2017, p. 168-179.

研究成果: ジャーナルへの寄稿評論記事

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