Journal article
Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms
Human molecular genetics, Vol.31(5), pp.775-782
09/30/2021
DOI: 10.1093/hmg/ddab289
PMCID: PMC8895728
PMID: 34590675
Abstract
Abstract The m.3243A>G mutation in the mitochondrial genome commonly causes retinal degeneration in patients with maternally inherited diabetes and deafness and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Like other mitochondrial mutations, m.3243A>G is inherited from the mother with a variable proportion of wild type and mutant mitochondrial genomes in different cells. The mechanism by which the m.3243A>G variant in each tissue relates to the manifestation of disease phenotype is not fully understood. Using a digital PCR assay, we found that the % m.3243G in skin derived dermal fibroblasts was positively correlated with that of blood from the same individual. The % m.3243G detected in fibroblast cultures remained constant over multiple passages and was negatively correlated with mtDNA copy number. Although the % m.3243G present in blood was not correlated with severity of vision loss, as quantified by Goldmann visual field, a significant negative correlation between % m.3243G and the age of onset of visual symptoms was detected. Altogether, these results indicate that precise measurement of % m.3243G in clinically accessible tissues such as skin and blood may yield information relevant to the management of retinal m.3243A>G-associated disease.
Details
- Title: Subtitle
- Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms
- Creators
- Nathaniel K Mullin - University of IowaKristin R Anfinson - University of IowaMegan J Riker - University of IowaKelsey L Wieland - University of IowaNicole J Tatro - University of IowaTodd E Scheetz - University of IowaRobert F Mullins - University of IowaEdwin M Stone - University of IowaBudd A Tucker - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.31(5), pp.775-782
- DOI
- 10.1093/hmg/ddab289
- PMID
- 34590675
- PMCID
- PMC8895728
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Grant note
- DOI: 10.13039/100000002, name: National Institutes of Health, award: T32-GM008629, T32-GM007337, P30-EY025580
- Language
- English
- Date published
- 09/30/2021
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9984187143502771
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