GTPBP3 Mutations Cause Mitochondrial Translation Defect - And Diseases

Diseases of dysfunctional mitochondria, also known as mitochondrial diseases, have a prevalence of  up to 1 in 2,000 people and predominantly affect children, though adult-onset disorders are also recognized. An international collaboration has discovered that mutations in the GTPBP3 gene cause defects in protein synthesis in mitochondria and are associated with a devastating disease. Mitochondria are compartments present in every cell of the body except red blood cells and are responsible for generating almost all of the energy needed by the body to sustain life and to grow. In mitochondria, energy is produced by a large number of proteins, which are manufactured according to a blueprint, the cell’s DNA.  read more

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