Loading...
Publication
Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 393.39 KB | Adobe PDF |
Advisor(s)
Abstract(s)
Most inherited mitochondrial diseases in infants result from mutations in nuclear genes encoding proteins with specific functions
targeted to the mitochondria rather than primary mutations in the mitochondrial DNA (mtDNA) itself. In the past decade, a
growing number of syndromes associated with dysfunction resulting from tissue-specific depletion of mtDNA have been reported
in infants. MtDNA depletion syndrome is transmitted as an autosomal recessive trait and causes respiratory chain dysfunction
with prominent neurological, muscular, and hepatic involvement. Mendelian diseases characterized by defective mitochondrial
protein synthesis and combined respiratory chain defects have also been described in infants and are associated with mutations
in nuclear genes that encode components of the translational machinery. In the present work, we reviewed current knowledge of
clinical phenotypes, their relative frequency, spectrum of mutations, and possible pathogenic mechanisms responsible for infantile
disorders of oxidative metabolism involved in correct mtDNA maintenance and protein production.
Description
Keywords
mtDNA OXPHOS DNA Replication Mitochondrial DNA Depletion Syndrome Doenças Genéticas
Pedagogical Context
Citation
J Child Neurol. 2011 Jul;26(7):866-75. Epub 2011 May 13