Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.

María E Vázquez-MosqueraEmiliano González-VioqueSofía Barbosa-GouveiaDiego Bellido-GuerreroCristina Tejera-PérezMiguel A Martinez-OlmosAntía Fernández-PomboLuis A Castaño-GonzálezRoi Chans-GerpeMaria-Luz Couce

Published in: Orphanet journal of rare diseases (2022)

Although blood does not seem to be a suitable sample for transcriptomic analysis of patients with suspected MODY, in our study, we detected expression alterations in some of the genes studied in almost 58% of patients. That opens the door for future studies that can clarify the molecular cause of the clinic of these patients and thus be able to maintain a more specific follow-up and treatment in each case.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
prognostic factors
primary care
gene expression
metabolic syndrome
patient reported outcomes
adipose tissue
weight loss
copy number
binding protein
glycemic control
current status
solid state