Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

9.3K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
9.3K
Mutations01:39

Mutations

89.6K
Overview
89.6K
Mutations01:35

Mutations

41.7K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
41.7K
Mismatch Repair01:20

Mismatch Repair

5.6K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.6K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.3K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.3K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

9.6K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences·2026
Same author

MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.

Metabolomics : Official journal of the Metabolomic Society·2025
Same author

Bezafibrate was unsuccessful to treat leber hereditary optic neuropathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2025
Same author

Foecal incontinence disorders in Wolfram syndrome: a new manifestation.

Journal of medical genetics·2024
Same author

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Nature communications·2024
Same author

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

American journal of human genetics·2024

Related Experiment Video

Updated: Nov 7, 2025

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.7K

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.

Sylvie Gerber1, Christophe Orssaud2, Josseline Kaplan1

  • 1Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

Genes
|April 30, 2021
PubMed
Summary

Pathological variants in the malonyl-CoA-acyl carrier protein transacylase (MCAT) gene can cause hereditary optic neuropathy. This study identifies new MCAT mutations, expanding the known genetic causes of this vision-impairing condition.

Keywords:
MCAThereditary optic neuropathy (HON)nuclear LHON-like

More Related Videos

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.4K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.9K

Related Experiment Videos

Last Updated: Nov 7, 2025

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.7K
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.4K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.9K

Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Hereditary optic neuropathy (HON) is a group of genetic disorders affecting the optic nerve.
  • Pathological variants in the malonyl-CoA-acyl carrier protein transacylase (MCAT) gene have been linked to childhood-onset optic nerve degeneration.

Observation:

  • A cohort of 200 families with HON was screened, including 51 families with negative molecular diagnostic tests.
  • Two novel MCAT mutations were identified in a 20-year-old female patient presenting with acute, sudden, bilateral, and asymmetric central visual loss.
  • This presentation mimicked a Leber hereditary optic neuropathy (LHON)-like phenotype.

Findings:

  • The study expands the known phenotypic spectrum of MCAT mutations.
  • It reveals greater genetic heterogeneity in nuclear LHON-like phenotypes.
  • Two new MCAT mutations were discovered in a patient with an atypical presentation of HON.

Implications:

  • MCAT mutations should be considered in the genetic investigation of HON patients, regardless of their specific clinical presentation.
  • This finding broadens the diagnostic possibilities for patients with hereditary optic neuropathies.
  • Understanding the wider phenotypic presentation of MCAT mutations aids in diagnosing and managing HON.