NARP Syndrome – Medicine MCQ

NARP Syndrome is a?

A. Lysosomal storage disorder
B. Mitochondrial function disorder
C. Glycogen storage disorder
D. Golgi body transport disorder

Correct answer : B. Mitochondrial function disorder

NARP Syndrome

• NARP syndrome is a mitochondrial function disorder.
• The main components of NARP syndrome are:
  • Neuropathy (peripheral neuropathy which mostly affects sensory nerves)
  • Ataxia
  • Retinitis pigmentosa
• Other features include seizures, hearing loss and cardiac conduction defects.
• It occurs due to a mutation in the MT-ATP6 gene, which results in altered structure or function of mitochondrial ATP synthase leading to decreased ATP production.
• As it involves a mutation of mitochondrial DNA, it is inherited from mother to child (maternal inheritance).
• Other maternally inherited mitochondrial DNA disorders include: Leigh syndrome, Leber’s hereditary optic neuropathy & Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ( MELAS ).