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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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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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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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LONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME.

Alessandro Feo1,2, Claudia Fossataro1, Néda Abraham1

  • 1Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California of Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California.

Retinal Cases & Brief Reports
|August 16, 2024
PubMed
Summary

The A3243G mitochondrial syndrome presents diverse eye and systemic symptoms within families. Early cardiac and systemic screening is advised for individuals with characteristic retinal findings and genetic confirmation of this mitochondrial retinopathy.

Keywords:
A3243G mutationbranch retinal vein occlusioncorneal endothelial polymegathismmitochondrial retinopathymitochondrial syndromemyocardial infarctionpattern dystrophy

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Area of Science:

  • Ophthalmology
  • Genetics
  • Mitochondrial Diseases

Background:

  • A3243G mutation is associated with mitochondrial diseases.
  • Mitochondrial retinopathy can manifest with varied clinical presentations.

Purpose of the Study:

  • To detail the clinical and multimodal imaging (MMI) findings in a family with A3243G mitochondrial retinopathy.
  • To present long-term follow-up data for affected family members.

Main Methods:

  • Retrospective analysis of medical and imaging records.
  • Utilized ultra-widefield fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography.
  • Long-term MMI follow-up ranged from 6 to 15 years.

Main Results:

  • Proband showed progressive bilateral macular atrophy, corneal endothelial polymegathism, and early-onset myocardial infarction (MI).
  • Sister had unilateral macular atrophy and significant systemic disease (multiple sclerosis, depression).
  • Mother presented with retinal vascular issues and dystrophy evolving to geographic atrophy, alongside diabetes and hearing loss.

Conclusions:

  • A3243G mitochondrial syndrome exhibits heterogeneous ocular and systemic features within families.
  • Characteristic maculopathy and early-onset MI suggest the need for genetic testing.
  • Recommend early cardiac and systemic screening for individuals with compatible retinal findings and genetic confirmation.