Document Detail

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.
MedLine Citation:
PMID:  19253345     Owner:  NLM     Status:  MEDLINE    
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.
Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
Related Documents :
12853115 - The role of mitochondria in the life of the nematode, caenorhabditis elegans.
25388005 - A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a h...
1974225 - Is there selection on rflp differences in mitochondrial dna?
16337195 - Free radicals-mediated damage in transmitochondrial cells harboring the t14487c mutatio...
15520885 - Comparative prnp genotyping of u.s. cattle sires for potential association with bse.
17726045 - In vitro and in silico analysis reveals an efficient algorithm to predict the splicing ...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
DNA, Mitochondrial / blood,  genetics*
Karnofsky Performance Status
Longitudinal Studies
MELAS Syndrome / genetics*,  physiopathology*
Point Mutation*
Polymerase Chain Reaction
Grant Support
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Effects of alcohol and smoking during pregnancy on infant autonomic control.
Next Document:  Primary hemangiopericytoma of the liver: sonographic findings.