A Deficit of ATP-ase Subunit 8: with Contribution for Two New Cases

Abstract

In two consanguineous children brother and sister were reported rare mitochondrial disorder caused by mutation of the gene of MT-ATP8: base change T8412C, with aminoacid change: methionin - threonine which wasthe cause for decreased activity of the synthesized protein (enzyme) and to dysfunction of central nervous system and muscle of the affected children. These cases give us the base to recommend children with muscle hypotonia, mental retardation with unknown cause to be hospitalized in Clinical genetics for confirmation of the diagnosis and careful genetic consultation. The foundation of new rare mitochondrial disease of ATP synthase subunit 8 deficiency is useful in Pediatrics and permit treatment and prenatal diagnosis of the family.

Keywords

• Mitochondrial Diseases
• ATP-ase Subunit 8 Deficit
• Mitochondrial DNA Mutation/MT-DNA Mutation/