Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1 + 418 word(s) 418 2020-12-15 08:01:28

Video Upload Options

Do you have a full video?

Confirm

Are you sure to Delete?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Guo, L. MT-ND4L Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3953 (accessed on 25 June 2024).
Guo L. MT-ND4L Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3953. Accessed June 25, 2024.
Guo, Lily. "MT-ND4L Gene" Encyclopedia, https://encyclopedia.pub/entry/3953 (accessed June 25, 2024).
Guo, L. (2020, December 23). MT-ND4L Gene. In Encyclopedia. https://encyclopedia.pub/entry/3953
Guo, Lily. "MT-ND4L Gene." Encyclopedia. Web. 23 December, 2020.
MT-ND4L Gene
Edit

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

genes

1. Introduction

The MT-ND4L gene provides instructions for making a protein called NADH dehydrogenase 4L. This protein is part of a large enzyme complex known as complex I, which is active in mitochondria. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.

Complex I is one of several enzyme complexes necessary for oxidative phosphorylation. Within mitochondria, these complexes are embedded in a tightly folded, specialized membrane called the inner mitochondrial membrane. During oxidative phosphorylation, mitochondrial enzyme complexes carry out chemical reactions that drive the production of ATP. Specifically, they create an unequal electrical charge on either side of the inner mitochondrial membrane through a step-by-step transfer of negatively charged particles called electrons. This difference in electrical charge provides the energy for ATP production.

Complex I is responsible for the first step in the electron transport process, the transfer of electrons from a molecule called NADH to another molecule called ubiquinone. Electrons are then passed from ubiquinone through several other enzyme complexes to provide energy for the generation of ATP.

2. Health Conditions Related to Genetic Changes

2.1. Leber hereditary optic neuropathy

A mutation in the MT-ND4L gene has been identified in several families with Leber hereditary optic neuropathy. This mutation, which can be written as T10663C or Val65Ala, changes a single protein building block (amino acid) in the NADH dehydrogenase 4L protein. Specifically, it replaces the amino acid valine with the amino acid alanine at protein position 65.

Researchers have not determined how a mutation in the MT-ND4L gene can lead to the vision loss characteristic of Leber hereditary optic neuropathy. This genetic change appears to disrupt the normal activity of complex I in the mitochondrial inner membrane, which may affect the production of ATP. It remains unclear, however, why the effects of this mutation are limited to the nerve that relays visual information from the eye to the brain (the optic nerve). Additional genetic and environmental factors probably contribute to the features of Leber hereditary optic neuropathy.

3. Other Names for This Gene

  • Complex I, subunit ND4L

  • mitochondrially encoded NADH 4L

  • mitochondrially encoded NADH dehydrogenase 4L

  • MTND4L

  • NADH dehydrogenase 4L

  • NADH dehydrogenase subunit 4L

  • NADH-ubiquinone oxidoreductase chain 4L

  • NADH-ubiquinone oxidoreductase, subunit ND4L

  • NADH4L

  • ND4L

  • NU4LM_HUMAN

References

  1. Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, MikhailovskayaIE, Sukernik RI, Wallace DC. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. HumGenet. 2002 Feb;110(2):130-8.
  2. Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation inmitochondrial complex I genes: mutation or polymorphism? J Med Genet. 2006Feb;43(2):175-9.
  3. Mroczek-Tońska K, Kisiel B, Piechota J, Bartnik E. Leber hereditary opticneuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet. 2003;44(4):529-38. Review.
  4. Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26[updated 2016 Jun 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1174/
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 335
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
1000/1000
Video Production Service