GRM7 gene mutations and consequences for neurodevelopment.

The metabotropic glutamate receptor 7 (mGlu), encoded by the GRM7 gene in humans, is a presynaptic, G protein-coupled glutamate receptor that is essential for modulating neurotransmission. Mutations in or reduced expression of GRM7 have been identified in different genetic neurodevelopmental disorders (NDDs), and rare biallelic missense variants have been proposed to underlie a subset of NDDs. Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hypomyelination, brain atrophy and defects in axon outgrowth.

Interleukin-6 deficiency modulates testicular function by increasing the expression of suppressor of cytokine signaling 3 (SOCS3) in mice.

Several cytokines have been reported to participate in spermatogenesis, including interleukin-6 (IL6). However, not many studies have been conducted on the loss of Il6 on the male reproductive tract. Nonetheless, there is considerable knowledge regarding the pathological and physiological role of IL6 on spermatogenesis.