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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

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...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

Updated: Jun 20, 2026

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

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Published on: February 10, 2023

[A3243G mitochondrial DNA mutation and heterogeneous phenotypic expression].

Carlos Harrison-Gómez1, Ashley Harrison-Ragle, Alejandro Macías-Hernández

  • 1Facultad de Medicina de León, Universidad de Guanajuato. Hospital Angeles León, Guanajuato, México. charrison@prodigy.net.mx

Revista Medica Del Instituto Mexicano Del Seguro Social
|September 12, 2009
PubMed
Summary

Mitochondrial DNA (DNAmt) mutations cause various clinical issues and are often underdiagnosed. This study identifies a specific DNAmt mutation linked to MELAS syndrome, improving diagnostic understanding.

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Area of Science:

  • Genetics
  • Neurogenetics
  • Molecular Biology

Background:

  • Mitochondrial DNA (DNAmt) mutations are linked to diverse clinical conditions and are frequently underdiagnosed.
  • Diagnosis involves clinical data, histopathology, biochemical analysis, or identifying specific DNAmt mutations.

Observation:

  • A patient and family presented with neurologic, cardiovascular, and endocrine system involvement.
  • Diagnosis of MELAS syndrome was confirmed through molecular genetic analysis of peripheral blood DNA.

Findings:

  • The specific point mutation A3243G in DNAmt was identified using polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis.
  • This mutation is a known cause of MELAS syndrome.

Implications:

  • Highlights the importance of genetic testing for mitochondrial DNA mutations in suspected cases.
  • Enhances understanding of MELAS syndrome's genetic basis and clinical spectrum.
  • Suggests increased awareness and diagnostic approaches for underdiagnosed mitochondrial disorders.