Depletion of mtDNA: Syndromes and genes

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

“…A minority of affected individuals present initially in infancy or childhood with isolated hepatic disease, occasionally following a viral illness. Affected individuals with this form may develop mild hypotonia and renal involvement manifesting as proteinuria and aminoaciduria [2,[38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55]. More recently, DGUOK mutations have been reported in a neonate with clinical and autopsy findings consistent with neonatal hemochromatosis and mtDNA depletion [56], and in individuals with adult-onset mitochondrial myopathy and mtDNA multiple deletions in skeletal muscle [57].…”

Mitochondrial regulation of epigenetics and its role in human diseases

“…Inherited mutations in mtDNA as well as depletion of mtDNA content have been reported in a variety of diseases, 11 including cancer. 12 Mutations in mtDNA, involving somatic mutations as well depletion in mtDNA content are also associated with development of tumors.…”

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

“…Mitochondrial DNA depletion syndromes (MDDS) are a clinically and genetically heterogeneous group of typically recessively inherited diseases with early or juvenile onset that are characterized by a severe reduction of mtDNA content (Alberio et al 2007). Based on affected tissues and their mtDNA content, the clinical presentations of MDDS can be classified into three different forms: encephalomyopathic, myopathic and hepatocerebral.…”