Immune dysregulation in patients with TRNT1 deficiency
نویسندگان
چکیده
Objective To investigate the pathogenesis of disease in patients with the deficiency of the CCA-adding enzyme tRNA nucleotidyltransferase 1 (TRNT1). The TRNT1 enzyme catalyzes an essential step for tRNA maturation and protein synthesis, however it is largely unknown how abnormalities in this pathway lead to inflammation and immunodeficiency. Patients and Methods: Whole exome sequencing (WES) was performed in a consanguineous Saudi family with 2 affected siblings and in a parent-child trio; candidate gene screening was subsequently performed in 3 sporadic Caucasian patients. Cytokine profiling, tissue immunohistochemistry, and deep RNA and tRNA sequencing were performed in patients’ primary cells. Protein function was studied in zebrafish embryos.
منابع مشابه
TRNT1 deficiency: clinical, biochemical and molecular genetic features
BACKGROUND TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance durin...
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عنوان ژورنال:
دوره 13 شماره
صفحات -
تاریخ انتشار 2015