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Studies of respiration in the mitochondria of isolated skeletal muscle have shown that the process cannot usually proceed in the absence of ADP or inorganic phosphate (the substrates required for ATP synthesis) from the medium in which the mitochondria are incubated. In patient X initial studies of isolated mitochondria showed that respiration could proceed at nearly maximal rate in the absence of ADP. When ADP was supplied in excess, phosphorylation to produce ATP proceeded as normal.Question 1: From these first studies which biochemical pathway is likely to be dysfunctional in patient X.
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In my opinion it might be related to...
In addition, skeletal muscle of vertebrates includes creatine
kinase, an enzyme which catalyses a reaction in which ATP reacts with
creatine (Cr) to form ADP and creatine phosphate (CrP): i.e. CrP + ADP
= Cr + ATP.
Creatine phosphate is a molecule that can store energy in its
phosphate bonds. In a resting muscle, excess ATP transfers its energy
to creatine, producing ADP and creatine phosphate. This acts as an
energy reserve that can be used to quickly create more ATP. When the
muscle starts to contract and needs energy, creatine phosphate
transfers its phosphate back to ADP to form ATP and creatine. This
reaction is catalyzed by the enzyme creatine kinase and occurs very
quickly; thus, creatine phosphate-derived ATP powers the first few
seconds of muscle contraction. However, creatine phosphate can only
provide approximately 15 seconds worth of energy, at which point
another energy source has to be used
Reference :
https://physoc.onlinelibrary.wiley.c....1113/JP273839 (pg 4
(1st papragraph)

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