Which of the following is related to ‘NARP’?
Correct Answer: Mitochondria
Description: Neurogenic weakness, ataxia, and retinitis pigmentosa (NARP) is characterized by moderate diffuse cerebral and cerebellar atrophy and symmetric lesions of the basal ganglia. The substitution of one nucleotide in the mitochondrial DNA at position 8993 gives rise to a maternally inherited syndrome of sensory NARP. The mutation creates a defective ATPase-6 of complex V of the mitochondrial respiratory chain. When >95% of mtDNA molecules are mutant, a more severe clinical neuroradiologic and neuropathologic picture (Leigh syndrome) emerges. Ref: Skorecki K., Mandel H. (2012). Chapter e18. Mitochondrial DNA and Heritable Traits and Diseases. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.
Category:
Biochemistry
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