Apoptosis is a process of programmed cell death that serves as a major mechanism for the
precise regulation of cell numbers, and as a defense mechanism to remove unwanted and …

Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …

Fatty liver accumulation results from an imbalance between lipid deposition and removal,
driven by the hepatic synthesis of triglycerides and de novo lipogenesis. The habitual diet …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition
resulting in hepatic failure with comorbidities involving the renal and neurologic systems and …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Human-induced pluripotent stem cells (hiPSCs) and CRISPR/Cas9 gene editing system
represent two instruments of basic and translational research, which both allow to acquire …

Mutations in the POLG gene have emerged as one of the most common causes of inherited
mitochondrial disease in children and adults. They are responsible for a heterogeneous …

Mitochondrial DNA depletion syndrome has become an important cause of inherited
metabolic disorders, especially in children, but also in adults. The manifestations vary from …