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Egyptian Journal of Medical Human Genetics

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Mitochondrial alterations in children with chronic liver disease

RM Shawky, TY Abdel-Gaffar, MA El-Etriby, MS ElMoneiri, NG Elhefnawy, R Elsherif, SM Nour El-Din

Abstract


Background: Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death.
Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children’s Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease (GI=
patients with Wilson’s disease (WD), GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other thanWilson’s and chronic hepatitis C).Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used for
studying mitochondrial DNA deletions by PCR.Results: Liver steatosis was higher in the group of patients with Wilson’s disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson’s disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to bemore prevalent among patients with chronic  hepatitis infection.Three of our patients (11.53%) had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients (32%) were considered to have mild mitochondrial affection,
9 patients (41%) had moderate mitochondrial affection, while 6 patients (27%) had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection.
Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis.



http://dx.doi.org/10.1016/j.ejmhg.2010.10.006
AJOL African Journals Online