{"doi":"10.1093/hmg/ddab289","title":"Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms","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.","journal":"Human Molecular Genetics","year":2021,"id":206976,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.954,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":792527,"name":"Kristin R. Anfinson","orcid":null,"position":1,"is_corresponding":false},{"id":480069,"name":"Megan Riker","orcid":null,"position":2,"is_corresponding":false},{"id":792528,"name":"Kelsey L Wieland","orcid":null,"position":3,"is_corresponding":false},{"id":705496,"name":"Nicole Tatro","orcid":null,"position":4,"is_corresponding":false},{"id":270481,"name":"Todd E. Scheetz","orcid":"0000-0002-1965-5811","position":5,"is_corresponding":false},{"id":270480,"name":"Robert F. Mullins","orcid":"0000-0002-5006-0891","position":6,"is_corresponding":false},{"id":270479,"name":"Edwin M. Stone","orcid":"0000-0003-3343-4414","position":7,"is_corresponding":false},{"id":270478,"name":"Budd A. Tucker","orcid":"0000-0003-2178-1742","position":8,"is_corresponding":false},{"id":363972,"name":"Nathaniel K. Mullin","orcid":"0000-0003-4320-2852","position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-18T23:51:45.688025Z","pmid":"34590675","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}