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Review
. 2007 Jun;45(6):1555-65.
doi: 10.1002/hep.21710.

Mitochondrial Hepatopathies: Advances in Genetics and Pathogenesis

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Free PMC article
Review

Mitochondrial Hepatopathies: Advances in Genetics and Pathogenesis

Way S Lee et al. Hepatology. .
Free PMC article

Abstract

Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases.

Figures

Fig. 1
Fig. 1
Respiratory chain protein complexes and oxidative phosphorylation of the mitochondria. Reducing equivalents derived from glycolysis, fatty acid oxidation, and the tricarboxylic acid cycle are converted into adenosine triphosphate (ATP) through a system of electron carriers (protein complexes I-IV, coenzyme Q, and cytochrome c) in the inner mitochondrial membrane through the efficient transport of electrons down this chain. This results in the generation of a transmembrane proton gradient that drives the synthesis of ATP by complex V, which is not shown (Cplx = complex; Cyt = cytochrome; ETF = electron transfer flavoprotein).
Fig. 2
Fig. 2
(A) Photomicrograph of liver biopsy from a 3-month-old child with POLG mutations and mitochondrial DNA depletion syndrome, showing microvesicular steatosis, cholestasis with bile pigment in canaliculi and ballooning degeneration of hepatocytes (hematoxylin and eosin stain, magnification ×200). (B) Oil-red-O stain demonstrating microvesicular deposits of the neutral lipid (magnification ×100). (C) Electron micrograph from the same patient showing small vesicles of lipid and pleomorphic, distorted mitochondria (magnification ×13,700).

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