A type of mitochondrial myopathy characterized by reduced copy of mtDNA in certain tissues and by symptoms such as muscle weakness, feeding difficulties, and development delays, and which may be accompanied by liver failure or brain abnormality as well
Mitochondrial DNA depletion syndrome is a type of mitochondrial myopathy. A mitochondrial myopathy is a type of myopathy associated with mitochondrial dysfunction. One of the major distinctions of this condition is the inability of the muscle to perform properly. In mitochondrial myopathies, the underlying cause is a dysfunctional mitochondrion due to a pathological mutation in the mitochondrial DNA. Nevertheless, in mitochondrial DNA depletion syndrome, there are no mutations but the number of mitochondrial DNA is reduced in certain cells or tissues, such as liver, muscle, or brain.
The condition is inherited in an autosomal recessive pattern. It is not uncommon to be fatal in infancy and early childhood. Certain variants may not be lethal past these stages. For instance, individuals with SUCLA2 encephalomyopathic variant may survive into adulthood.
Mitochondrial DNA depletion syndrome is characterized by the following common symptoms: muscle weakness, feeding difficulties, and development delays. Less common symptoms are liver failure and brain abnormality.
- mtDNA depletion syndrome