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Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Electron Transport Chain: Complex I and II01:46

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The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
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Mitochondria01:37

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Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
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A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
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Related Experiment Video

Updated: May 19, 2025

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
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DNA methyltransferase 1 modulates mitochondrial function through bridging m5C RNA methylation.

Jing Wang1, Xiaoqian Deng2, Tianshen Jian3

  • 1Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

Molecular Cell
|May 6, 2025
PubMed
Summary
This summary is machine-generated.

DNA methyltransferase 1 (DNMT1) regulates both DNA and RNA methylation, impacting mitochondrial function. Mutations in DNMT1

Keywords:
DNA methylationDNMT1RNA methylationmitochondrial dysfunctionneurodegeneration

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Area of Science:

  • Molecular Biology
  • Neuroscience
  • Epigenetics

Background:

  • DNA methyltransferase 1 (DNMT1) is crucial for maintaining DNA methylation patterns.
  • Mutations in the DNMT1 replication focus targeting sequence (RFTS) domain are linked to neurodegenerative disorders like autosomal dominant cerebellar ataxia-deafness and narcolepsy (ADCA-DN).

Purpose of the Study:

  • To investigate the non-canonical functions of DNMT1 beyond DNA methylation.
  • To elucidate the role of DNMT1 in RNA methylation and its contribution to neurodegeneration.

Main Methods:

  • Investigated DNMT1's interaction with mRNA transcripts in vitro and in vivo.
  • Utilized mouse models with mutated DNMT1 RFTS domains.
  • Assessed RNA methylation levels (m5C) and RNA stability.
  • Analyzed gene expression of metabolic genes and mitochondrial function markers.

Main Results:

  • DNMT1 directly binds to mRNA and facilitates 5-methylcytosine (m5C) RNA methylation by recruiting NSUN2.
  • Mutations in the DNMT1 RFTS domain lead to aberrant DNMT1-RNA interactions and increased m5C RNA methylation.
  • Elevated m5C RNA methylation enhances the stability of metabolic gene transcripts.
  • This leads to oxidative stress, mitochondrial dysfunction, and neurological symptoms in mice.

Conclusions:

  • DNMT1 plays a dual role in regulating both DNA and RNA methylation.
  • Aberrant RNA methylation by mutated DNMT1 contributes to neurodegeneration through mitochondrial dysfunction.
  • This study reveals a novel pathogenic mechanism for DNMT1 mutation-induced neurodegenerative diseases.