Human Genome Wide Association Studies found a significant risk of Type 2 Diabetes Mellitus (T2DM) in single nucleotide polymorphisms in the cdkal1 gene. The cdkal1 gene is remote from the insulin gene and with the surprising function of a specific tRNA modification. Population studies and case control studies acquired evidences of the connection between Cdkal1 protein and insulin production over the years. To obtain biochemical proofs directly linking potential SNPs to their roles in insulin production and availability is challenging, but the development of Cdkal1 knock out mice and knock out cell lines made it possible to extend our knowledge towards therapeutic field of diabetic research. Supporting the evidences, here we show that knock down of the cdkal1 gene using small interfering and short hairpin RNA in the NIT-1 cell line, a β-cell line inducible for insulin resulted in reduced levels of cdkal1 and mature insulin mRNAs, increased the level of precursor insulin mRNA, decreased Cdkal1 and insulin proteins, and diminished modification of tRNALys3 from t6A37 to ms2t6A37, the specified function of Cdkal1. tRNALys3 lacking ms2- is incapable of establishing sufficient hydrogen bonding energy and hydrophobic stabilization to decode the wobble codon AAG.
We report a case of granulomatosis with polyangiitis (GPA) in a
pediatric patient with a history of type 1 diabetes mellitus (T1DM)
after a somewhat unusual presentation. Antineutrophil cytoplasmic
antibody (ANCA)-associated vasculitides are a relatively rare entity in
the general population, and are even less common amongst the pediatric
population. Our patient’s chronic history of vague and systemic symptoms
paired with social and environmental stressors contributed to her
convoluted picture and late diagnosis. In addition, her T1DM adds an
interesting element to her case, begging the question of whether her
propensity for autoimmune conditions played a role in the development of
this disease. With this case, we hope to increase clinician level of
suspicion and promote early diagnosis and treatment for future pediatric
patients.
To the Editor, We present the case of an 11-year-old female with a history of type 1 diabetes, hematochezia, and iron deficiency anemia who was admitted for hypoxia following an endoscopy and colonoscopy. Room air saturations were in the low eighties, and she was started on oxygen by nasal cannula. A chest radiograph (Figure 1A) demonstrated findings consistent with viral airway disease, and on a nasal swab, she was positive for rhino/enterovirus but negative for COVID.
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