Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

$48.00 plus tax (Refund Policy)

Download / Buy Article:

Abstract:

Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M. Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene. APMIS 2008;116:41–49.

Structural and histochemical studies carried out in a series of seven cases (from five families) with isolated cytochrome c oxidase (COX) deficiency caused by mutations in the SCO2 gene ( 1, 2) disclosed changes concentrated in the nervous system, skeletal muscle and myocardium. In five patients homozygous for the E140K mutation, the phenotype was predominantly neuromuscular and the average life span ranged between 9 and 15 months. In two cases, the course was more rapid (death at 7 and 11 weeks of life) and featured marked cardiac hypertrophy (3- and 4-fold increase in heart weight). This predominantly cardiomyopathic phenotype was associated with compound heterozygosity (E140K with another nonsense mutation) in the SCO2 gene. Polioencephalopathy with neurodegeneration and neuronal drop out was present in all cases with evidence that retinal neurons might be seriously affected too. Involvement of spinal motoneurons together with cytochrome c oxidase deficiency in muscle represents a “double hit” for the skeletal muscle. The mitochondrial population was not found to be significantly increased or structurally altered, with the exception of two compound heterozygotes in which the cardiac mitochondria were increased in number and size. Our report extends knowledge of the pathology of COX deficiency caused by mutations in the SCO2 gene.

Keywords: COX deficiency; SCO2 mutations; cardiomyopathy; mitochondrial abnormalities; myopathy; neuropathy; retinopathy

Document Type: Research Article

DOI: http://dx.doi.org/10.1111/j.1600-0463.2008.00772.x

Affiliations: Centre of Applied Genomics, Department of Paediatrics

Publication date: January 1, 2008

Related content

Tools

Favourites

Share Content

Access Key

Free Content
Free content
New Content
New content
Open Access Content
Open access content
Subscribed Content
Subscribed content
Free Trial Content
Free trial content
Cookie Policy
X
Cookie Policy
ingentaconnect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more