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The disease was formerly known as myoadenylate deaminase deficiency (MADD). In virtually all cases, the deficiency has been caused by an SNP mutation, known as rs17602729 or C34T . While it was initially regarded as a recessive (or purely homozygous ) disorder, some researchers have reported the existence of similarly deleterious effects from ...
The autoimmune regulator (AIRE) is a protein that in humans is encoded by the AIRE gene. [5] It is a 13kbp gene on chromosome 21q22.3 that encodes 545 amino acids. [6] AIRE is a transcription factor expressed in the medulla (inner part) of the thymus. It is part of the mechanism which eliminates self-reactive T cells that would cause autoimmune ...
Li et al. have found that NAD + directly regulates protein-protein interactions. [83] They also show that one of the causes of age-related decline in DNA repair may be increased binding of the protein DBC1 (Deleted in Breast Cancer 1) to PARP1 (poly[ADP–ribose] polymerase 1) as NAD + levels decline during aging. [ 83 ]
[22] [136] Symptoms of Parkinson's disease are known to develop when the dopamine content of the caudate nucleus drops below 30% of the normal level. [ 22 ] [ 134 ] [ 135 ] [ 31 ] Loss of striatal dopamine reaches a level of 40% in healthy people by the age of 75, whereas in people with Parkinson's disease, the loss is around 70% at diagnosis ...
However, Jamaican pediatrician Cicely Williams introduced the term in 1935, two years after she published the disease's first formal description. Williams was the first to conduct research on kwashiorkor and differentiate it from other dietary deficiencies. She was the first to suggest that this might be a deficiency of protein.
Alterations in protein metabolism may also produce pellagra-like symptoms. An example is carcinoid syndrome, a disease in which neuroendocrine tumors along the GI tract use tryptophan as the source for serotonin production, which limits the available tryptophan for niacin synthesis. In normal patients, only one percent of dietary tryptophan is ...
Protein C is vitamin K-dependent. Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin. Protein C has a short half life (8 hour) compared with other vitamin K-dependent factors and therefore is rapidly depleted with warfarin initiation, resulting in a transient hypercoagulable state.
The historic importance of vitamin C deficiency relates to occurrence on long sea-going voyages, when the ship food supplies had no good source of the vitamin. Deficiency results in scurvy when plasma concentrations fall below 0.2 mg/dL, whereas the normal plasma concentration range is 0.4 to 1.5 mg/dL.