TYMP


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TYMP

A gene on chromosome 22q13.33 that encodes thymidine phosphorylase, which specifically acts on endothelial cells and promotes angiogenesis.

Molecular pathology
Defects in TYMP cause mitochondrial neurogastrointestinal encephalomyopathy.
References in periodicals archive ?
The predominantly gastrointestinal form of MDDS, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), is caused by a thymidine phosphorylase deficiency due to TYMP mutations and primarily affects smooth muscle and the brain (13).
2 deleterious mutations): 122 blood, 21 muscle, 15 liver, and 7 skin fibroblast samples from patients with 2 proven mutations in 1 of 8 nuclear genes (POLG, DGUOK, TK2, TYMP, MPV17, SUCLA2, SUCLG1, and RRM2B) known to cause mtDNA depletion.
Ninety-seven samples from symptomatic individuals suspected of having a mitochondrial disorder but with sequence analyses revealing only 1 mutation or an unclassified novel variant were also evaluated for mtDNA depletion (POLG, 59 blood and 6 muscle samples; DGUOK, 16 blood samples; TK2, 1 muscle and 5 blood samples; MPV17, 6 blood samples; TYMP, 4 blood samples) (see Table S4A in the Data Supplement that accompanies the online version of this article at http://www.
The mean mtDNA content in blood samples was reduced to 78% of the control value in samples from individuals with POLG mutations, 52% in those with DGUOK or MPV17 mutations, 79% in those with TK2 mutations, 70% in those with TYMP mutations, and 39% in those with RRM2B mutations (see Table 2A in the online Data Supplement).
The mtDNA content was not reduced in blood samples from 97 symptomatic individuals with a single mutation or unclassified variant in POLG, DGUOK, TK2, or TYMP (mean mtDNA content 105%, 98%, 118%, and 141% of the age-matched pooled control value, respectively) (Fig.
Audiologists used the QT1 Quick Tymp Tympanometer (American Electromedics Corp, Amherst, New Hampshire) to perform the immittance testing.
A study coordinator trained each physician in the otoscopic examination of the ear, the use of the Welch Allyn Micro Tymp 2 (Skaneateles Falls, NY), and tympanogram interpretation.