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Abstract

A COMPREHENSIVE REVIEW ON A RARE GENETIC MITOCHONDRIAL DISEASE: ALPER’S DISEASE

Kamini Bhati*, Apeksha Kadam and Rajashree Mashru

Abstract

Alper’s disease known as Alper’s Hutttenlocher syndrome is a rare genetic disorder results from mutation of POLG (Polymerase gamma) gene. This gene is required for Mitochondrial DNA replication and repair. This disease has mode of recessive inheritance. More than 145 mutations are identified which is responsible for pathogenicity of the disease. Mutation in POLG is not specific for Alper’s disease as it can be responsible for other mitochondrial disease, juvenile onset and involvement of liver differentiate the disease from other disorder like Myoclonus epilepsy with ataxia and ataxia neuropathy syndrome. Alper’s disease generally affects brain, liver and muscle as these organs requires large amount of energy. Onset of symptoms usually occurs at the age of 1-3 year or 17-21 year of life followed by rapid progression of disease. Main characteristic features of the disease are epilepsy, psychomotor retardation and liver failure. Symptoms may be varied from headache and visual loss, ataxia, hallucination, cognitive impairment to complete ophthalmoplegia and liver failure dep ending upon stage and severity of the disease. Electroencephalogram (EEG), magnetic resonance spectroscopy (MRI), Genetic testing, Mitochondrial DNA content can be used for diagnosis purpose. Currently complete cure for disease is not available however symptoms are managed by supportive treatment.

Keywords: Alper’s Hutttenlocher syndrome, Mitochondrial disease, Polymerase Gamma gene, Epilepsy, Hepatic failure, Neuro-degeneration.


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