Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Article Abstract:

A study is reported involving two infants affected by neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis and combined deficiency of mitochondrial DNA (mtDNA)-related mitochondrial respiratory chain (MRC) complexes. Genetic investigation of this defective mtDNA translation reveals novel mutations in the mitochondrial elongation factor G1 (EFG 1) and mitochondrial elongation factor Tu (EFTu) in the infants.

Genetic translation, Translation (Genetics), Report

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Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

Article Abstract:

A study is conducted to identify two de novo heterozygous missense mutations of a conserved amino acid in the basic region of the TCF4 gene in three subjects with Pitt-Hopkins syndrome (PHS). The findings demonstrate that TCF4 anomalies are responsible for PHS and provide the evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects.

United States, Analysis, Risk factors, Mental illness, Mental disorders, Genetic transcription, Transcription (Genetics)

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Article Abstract:

Mutations of SURF-1 in Leigh disease (subacute necrotizing encephalomyelopathy) linked to cytochrome c oxidase (COX) deficiency are discussed. Eleven patients in nine families were studied with mutation analysis of candidate genes which included SURF-1, the yeast homologue of which codes for a mitochondrial protein required for maintenance of COX respiration and activity.

Italy, Germany, Spain, Health aspects, Usage, Physiological aspects, Genetic disorders, Cytochrome oxidase

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