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Pathology Genetics cd79f8e1

Mode of inheritance of Leber hereditary optic neuropathy is?

A
Mitochondrial DNA damage disorder
B
Lipid storage disorder
C
Nucleotide Excision Repair disorder
D
Lysosomal storage disorder
High-Yield Explanation
Ans. is 'a' i.e., Mitochondrial DNA damage disorder * Important mitochondrial disorders are Pearson syndrome, Leigh syndrome, MELAS, Keamssayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Chronic progressive ophthalmoplegia (CPEO), Neurogenic weakness with ataxia and retinitis pigmentosa (NARP), infantile myopathy and lactic acidosis (IMLA), and myoclonic epilepsy with raggedred fibres (MERRF).* The organ mostly affected are CNS (neurological), myocardium, skeletal muscle, kidney and liver, i.e. organs which have large number of mitochondria.

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