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(NMR) spectroscopy of skeletal muscle in this patient demonstrated normal tricarboxylic
 

Summary: (NMR) spectroscopy of skeletal muscle in
this patient demonstrated normal tricarboxylic
acid cycle flux but reduced adenosine tri-
phosphate (ATP) production, suggesting im-
paired coupling of these processes (fig. S5, D
and E). Additional studies of other kindred
members will be required to establish the fre-
quency and severity of these manifestations.
These findings establish a causal relation-
ship between a mitochondrial mutation and
hypertension, hypercholesterolemia, and hy-
pomagnesemia. The mitochondrial origin of
this disorder is of particular interest given
recent evidence implicating mitochondrial
dysfunction in type 2 diabetes mellitus and
insulin resistance, other components of the
metabolic syndrome. Rare mitochondrial mu-
tations cause diabetes with deafness (25). In
vivo NMR of skeletal muscle has linked
loss of mitochondrial function to insulin re-

  

Source: Altschuler, Steve - Department of Pharmacology, UT Southwestern Medical Center
Needleman, Daniel - School of Engineering and Applied Sciences, Harvard University

 

Collections: Biology and Medicine; Biotechnology