Answered: Leigh syndrome is characterized by…

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Leigh syndrome is characterized by psychomotor regression: that is, the progressive loss of mental and
movement abilities. Patients also suffer from lactic
acidosis, a condition in which mitochondrial respiration is deficient, so their tissues metabolize glucose
anaerobically, leading to the buildup of lactate. Some
patients with Leigh syndrome have a mutation in the
mitochondrial gene MT-CO3, which encodes a subunit of the electron transport complex cytochrome
c oxidase. Other patients diagnosed with Leigh syndrome have a loss-of-function mutation in the nuclear
gene SURF1, which encodes a factor needed for the
assembly of this same enzyme complex.
a. How can the same symptoms result from mutations
in a mitochondrial gene and from mutations in a
nuclear gene?

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