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Series GSE1462

Query DataSets for GSE1462

Status

Public on Jan 22, 2005

Title

Mitochondrial disorders

Organism

Homo sapiens

Experiment type

Expression profiling by array

Summary

Extremely variable clinic and genetic features characterize Mitochondrial Encephalomyopathy Disorders (MED). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MED, the "mutant load" in an affected tissue is directly related to the severity of the phenotype. However, the clinical phenotype is not simply a direct consequence of the relative abundance of mutated mtDNA. Other factors, such as nuclear background, can contribute to the disease process, resulting in a wide range of phenotypes caused by the same mutation. Using Affymetrix oligonucleotide cDNA microarrays (HG-U133A), we studied the gene expression profile of muscle tissue biopsies obtained from 12 MED patients (4 common 4977-bp deleted mtDNA and 8 A3243G: 4 PEO and 4 MELAS phenotypes) compared with age-matched healthy individuals.
Keywords = mtDNA mutation
Keywords = muscle biopsy
Keywords = human
Keywords = mitochondrial disease
Keywords: other

Web link

http://www.centrodinoferrari.com

Contributor(s)

Crimi M, Comi GP

Citation(s)

15728662

Submission date

Jun 08, 2004

Last update date

Aug 10, 2018

Contact name

Marco Crimi