hrp0098s12.3 | The impact of gonadotrophin dysregulation on neurocognition | ESPE2024

Studying the genetic interplay between GnRH deficiency and associated neurocognitive disorders by combining in silico, in vitro and in vivo tools.

Oleari Roberto , Lettieri Antonella , Amoruso Federica , Scheiffele Peter , Howard Sasha , Ruhrberg Christiana , Cariboni Anna

Gonadotropin releasing hormone (GnRH) neurons embryonically originate in nasal placode and migrate to hypothalamus, where they release GnRH to control reproduction. Defective GnRH neuron development or function leads to GnRH deficiency (GD), which is often associated to neurodevelopmental and neurological syndromes, including epilepsy, ataxia, intellectual disabilities and deafness. In addition, a register-based study showed correlation between delayed puberty and neurodevelop...

hrp0097s12.2 | What's new for the HPG Axis | ESPE2023

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Cariboni Anna , Oleari Roberto , Lettieri Antonella , van den Munkhof Marleen , van Battum Eljo , Tacconi Carlotta , Spreafico Marco , Paganoni Alyssa , Amoruso Federica , Eberini Ivano , Dunkel Leonard , Fantin Alessandro , Howard Sasha , Pasterkamp Jeroen

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...