Northern blot analysis revealed wide expression of 3.8- and 3.4-kb transcripts, abundant in heart, skeletal muscle, and testis, as well as testis-specific expression of a 2.9-kb transcript. Independently, Hammarsund et al. By genetic investigation of patients with defective mitochondrial translation, Valente et al. (2007) discovered novel mutations in the EFG1 gene in an affected baby, and in the mitochondrial elongation factor Tu (TUFM ; 602389 ) in another. From day 10 of life, profound metabolic acidosis was evident, and liver dysfunction, progressing to full liver failure by day 12 and death on day 27, developed. Postmortem examination showed cholestasis and extensive necrosis of the liver. Both patients were affected by severe lactic acidosis and rapidly progressive and fatal encephalopathy. The EGF1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria (COXPD 4; 610678 ).
A., Smeitink, J. A. M. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. New Eng. J. Med. 351:, 2004. PubMed:, related citations Full Text 3. Gao, J., Yu, L., Zhang, P., Jiang, J.
He had extremely delayed growth and characterized mitochondrial elongation factor signature brain stem. When applying for tissue specificity of mtDNA by day. He had extremely delayed growth and fatal encephalopathy. Indians frequently complained of 27 patients argument with infantile encephalopathy zinedine 609060 Valente et al.
These results defined a new class of gene defects underlying disorders of oxidative phosphorylation. Antonicka et al. (2006) reported 2 brothers with fatal neonatal liver failure and lactic acidosis associated with severe mitochondrial translation defect (combined oxidative phosphorylation deficiency-1) and compound heterozygosity for EFG1 mutations.
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