Document Detail


Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.
MedLine Citation:
PMID:  19253345     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), one of the most common mitochondrial multisystemic diseases, is most commonly associated with an A-to-G transition at nucleotide position 3243 (A3243G) in mitochondrial DNA. We studied 34 individuals harboring the A3243G mutation for up to 7 years; 17 had the full MELAS phenotype and 17 who were classified as "carrier relatives" because they were either asymptomatic or had some symptoms suggestive of mitochondrial disease but no seizures or strokes. Using the sensitive real-time polymerase chain reaction to quantify the A3243G mutation, we confirmed that the percent mutation decreases progressively in DNA isolated from blood: the average percent decrease was 0.5% per year for fully symptomatic patients and 0.2% per year for oligosymptomatic carrier relatives. We also correlated mutant loads with functional status estimated by the Karnofksky score: even though the mutation load decreases, the level of functioning worsens in fully symptomatic patients, whereas the level of functioning of carrier relatives remains largely unchanged. This study suggests that A3243G mutant load in DNA isolated from blood is neither useful for prognosis nor for functional assessment.
Authors:
Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  149A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-03-31     Completed Date:  2009-06-17     Revised Date:  2013-11-27    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  584-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
DNA, Mitochondrial / blood,  genetics*
Humans
Karnofsky Performance Status
Longitudinal Studies
MELAS Syndrome / genetics*,  physiopathology*
Phenotype
Point Mutation*
Polymerase Chain Reaction
Prognosis
Grant Support
ID/Acronym/Agency:
HD32062/HD/NICHD NIH HHS; P01 HD032062/HD/NICHD NIH HHS; P01 HD032062-159001/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial
Comments/Corrections

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