: a target and generator of oxidative stress.
GCK associated with MODY 2, CCM2 associated with type 2 cerebral cavernous malformations, OGDH associated with alpha-ketoglutarate dehydrogenase deficiency (short stature, cognitive impairment, and movement abnormalities), and IGFBP-3 whose deletion has been associated with a 20% decrease in postnatal growth are among these genes (3).
To summarize, our patient with hyperglycemia and dysmorphic features had a deletion of 7.23 Mb comprising the region 7p13-p12.1, with involvement of 39 OMIM genes, including: GCK associated with MODY 2, CCM2 associated with type 2 cerebral cavernous malformations, IGFBP-3 associated with decreased postnatal growth, and OGDH associated with alpha-ketoglutarate dehydrogenase deficiency.
Szabo, "Intra-mitochondrial poly(ADP-ribosyl)ation: potential role for alpha-ketoglutarate dehydrogenase
," Mitochondrion, vol.
Diabetes mellitus, thiamine dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase
A naturally occurring cofactor for the mitochondrial enzymes pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase
, LA has been shown to have a variety of properties which can interfere with the pathogenesis or progression of AD.
(40) R-alpha lipoic acid is a naturally occurring cofactor for the mitochondrial enzymes pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase
. (40) These authors concluded that state-of-the-art Phase 2 trial is urgently needed.
It has also been shown that the AD brain has decreased activity of pyruvate dehydrogenase complex which generates acetyl-CoA, the precursor of acetylcholine from pyruvate [41, 42], decreased activity of phosphofructokinase , and alpha-ketoglutarate dehydrogenase
 but increased cerebral release of ammonia and amino acids [39, 40].
Scarpa, "Independent modulation of the activity of alpha-ketoglutarate dehydrogenase
complex by [Ca.sup.2+] and [Mg.sup.2+]," Biochemistry, vol.