Medical Research Council - London Institute of Medical Sciences

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Fertile Findings

Gene mutations identified that cause Sertoli cell defects and affect male fertility

02 July 2021

Fertile Findings

Like impossibly numerous coloured handkerchiefs rammed inside a clown’s pocket, a densely-packed network of tubules fill the testes. Here millions of sperm are produced every hour, but any knot in the system can cause infertility. Mutations in the genes NM2A or NM2B cause infertility in mice, and in humans are linked to conditions from deafness to glomerulosclerosis. Investigating the mechanisms of disruption could have far-reaching implications. A study has shown that mice with one of these mutations had smaller testes and defects in their Sertoli cells – key players in sperm production, pictured in the tubules. Further experiments found that the microtubule cytoskeleton – the internal scaffold marked in green and red – was disorganised, and that both NM2A and NM2B must be silenced to affect fertility. Given the wide ranging impacts of these mutations in humans, findings like this could potentially breed improved treatments for more than fertility alone.

Written by Anthony Lewis

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