[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome]. / Detección de deleciones en DNA mitocondrial heteroplásmico por medio de PCR EN el síndrome de Kearns-Sayre.
Arch Soc Esp Oftalmol
; 83(3): 155-9, 2008 Mar.
Article
in Es
| MEDLINE
| ID: mdl-18311673
ABSTRACT
OBJECTIVE:
To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome.METHODS:
Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed.RESULTS:
The affected patient showed ptosis, progressive external ophthalmoplegia, pigmentary changes in the peripheral retina and right bundle block. Molecular analysis disclosed a approximately 5 kb deletion in the mitochondrial DNA and some wild type mtDNA indicating heteroplasmy.CONCLUSIONS:
Molecular analysis of mitochondrial DNA confirmed the clinical diagnosis of Kearns-Sayre syndrome. PCR provides a rapid method to identify the common 4997 bp deletion in Kearns-Sayre syndrome. In such cases, PCR diagnosis could avoid invasive methods such as muscle biopsy or spinal tap.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA, Mitochondrial
/
Kearns-Sayre Syndrome
/
Polymerase Chain Reaction
/
Gene Deletion
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
Es
Journal:
Arch Soc Esp Oftalmol
Year:
2008
Type:
Article
Affiliation country:
Mexico