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 CoucePublished 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.