Lessel-Kreienkamp syndrome (Argonaute syndrome)
RNA interference is the main mechanism of post-transcriptional gene regulation in eukaryotic cells. Precursors of microRNAs (miRNAs) are transcribed and processed to form the RNA-induced silencing complex RISC together with Argonaute proteins (AGO1-4). Each miRNA recognizes a set of target mRNAs via base pairing. This leads to inhibition of translation and degradation in cytoplasmic processing (P-) bodies. We recently described variants in AGO2 in association with a neurodevelopmental disorder characterized by intellectual disability, delayed motor development and delayed language development. HUGO gene nomenclature committee has named this syndrome: Lessel-Kreienkamp syndrome (LESKRES, MIM # 619149). However, the significance of the variants at the molecular, cellular and clinical level remains largely unclear.
Together with Prof. Hans-Jürgen Kreienkamp and Prof. Gunter Meister, utilizing patient-derived iPSC´s and mouse models, we aim to determine the mechanism of Argonaute-associated neurodevelopment delays, shed more light on the role of miRNA metabolism in neuronal development, and to ultimately identify targeted treatment options for this disorder.
Furthermore, during the recent years we have established a close relationship with families of the affected individuals:
Facebook-based family support group
Argonaute Syndromes Conference 2022 by AGO Alliance
Nobel Laureate Victor Ambros on the Human Impact of MicroRNA Research | Argonaute Syndrome Insights
