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

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

10.2K
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...
10.2K
Mutations01:39

Mutations

98.4K
Overview
98.4K
Mutations01:35

Mutations

46.6K
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...
46.6K
Mismatch Repair01:20

Mismatch Repair

7.2K
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...
7.2K
Mismatch Repair01:36

Mismatch Repair

45.9K
Overview
45.9K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.7K
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.7K

You might also read

Related Articles

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

Sort by
Same author

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

International journal of neonatal screening·2026
Same author

Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.

Brain communications·2026
Same author

Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout.

PloS one·2026
Same author

Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort.

Journal of neuromuscular diseases·2026
Same author

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Bioinformatics (Oxford, England)·2026

Related Experiment Video

Updated: Apr 16, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.1K

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

María M O'Callaghan1, Sonia Emperador2, Mercè Pineda1

  • 1Departamentos de Neurología, Bioquímica Clínica y de Patología, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.

Mitochondrion
|March 14, 2015
PubMed
Summary

Urine cells show the highest mitochondrial DNA (mtDNA) mutation loads, making urine a suitable sample for diagnosing mtDNA mutations. This finding aids in assessing recurrence risk in offspring from asymptomatic mothers.

Keywords:
MELASMitochondrial DNA point mutationsMitochondrial diseasesMutation loadUrine

More Related Videos

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

5.8K
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

4.6K

Related Experiment Videos

Last Updated: Apr 16, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.1K
Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

5.8K
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

4.6K

Area of Science:

  • Mitochondrial genetics
  • Molecular diagnostics
  • Human genetics

Background:

  • Mitochondrial DNA (mtDNA) mutations are linked to various inherited disorders.
  • Accurate detection of mtDNA mutations is crucial for diagnosis and genetic counseling.
  • Current diagnostic methods often rely on blood samples, which may not always reflect the full mutation burden.

Purpose of the Study:

  • To evaluate urine cells as a potential diagnostic sample for mtDNA mutations.
  • To compare mutation loads in blood, urine, and buccal mucosa.
  • To assess the utility of urine analysis for identifying asymptomatic carriers at risk of transmitting mtDNA disorders.

Main Methods:

  • Analysis of six specific mtDNA mutations (m.3243A>G, m.3252A>G, m.15923A>G, m.13513G>A, m.8993T>G, m.9176T>C) in 27 subjects.
  • Comparison of mutation loads across blood, urine, and buccal mucosa samples.
  • Correlation of mutation loads with clinical manifestation of mitochondrial disorders.

Main Results:

  • Urine cells exhibited the highest mutation load for all studied mtDNA mutations.
  • Significantly higher mutation loads were observed in blood, urine, and buccal mucosa of individuals with clinical signs of mitochondrial disorders compared to asymptomatic subjects.
  • Mutation loads in urine samples were consistently higher than in blood samples.

Conclusions:

  • Urine is a suitable and potentially superior biological sample for the molecular diagnosis of mtDNA mutations.
  • Urine analysis can aid in identifying asymptomatic mothers at risk of recurrence, even if blood tests are negative.
  • This approach can improve the assessment of recurrence risk for mitochondrial disorders in offspring.