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Decreased activity of mitochondrial PDH with age has been shown in the heart as well as in certain regions of the brain (the striatum and brainstem). [6] Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome.
The neurological form of PDCD contributes to hypotonia, poor feeding, lethargy and structural abnormalities in the brain. [4] Patients may develop seizures and/or neuropathological spasms. These presentations of the disease usually progress to mental retardation , microcephaly , blindness , and spasticity.
n/a Ensembl ENSG00000163114 n/a UniProt P29803 n/a RefSeq (mRNA) NM_005390 n/a RefSeq (protein) NP_005381 n/a Location (UCSC) Chr 4: 95.84 – 95.84 Mb n/a PubMed search n/a Wikidata View/Edit Human Pyruvate dehydrogenase (lipoamide) alpha 2, also known as pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial or PDHE1-A type II, is an enzyme that in humans is ...
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial is an enzyme that in humans is encoded by the PDHA1 gene.The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA.
The phenomenon has been observed to occur several minutes after the removal of medical ventilators used to pump air in and out of brain-dead patients. [4] It also occurs during testing for apnea—that is, suspension of external breathing and motion of the lung muscles—which is one of the criteria for determining brain death used for example by the American Academy of Neurology.
Brain death is used as an indicator of legal death in many jurisdictions, [6] but it is defined inconsistently and often confused by the public. [7] Various parts of the brain may keep functioning when others do not anymore, and the term "brain death" has been used to refer to various combinations.
Pymol-generated image of E1 subunit of pyruvate dehydrogenase complex in E. Coli. The E1 subunit, called the pyruvate dehydrogenase subunit, is either a homodimer (comprising two “α” chains, e.g. in Escherichia coli) or a heterotetramer of two different chains (two “α” and two “β” chains).
For example, high levels of urea can indicate kidney damage. High levels of cortisol, the hormone released under stress, could indicate a violent death. Creatinine is stable post-mortem, so the concentration at death is preserved. This is also helpful to determine the kidney function of an individual.