Male infertility – a new cause discovered

Male infertility – a new cause discovered

Many reasons for male infertility remain idiopathic, with no known cause. Sometimes, when a genetic disorder prevents the production of mature sperm (spermatogenesis) and transportation to the egg for fertilization, infertility is caused. Infertility occurs in about 7% of the male population and it is estimated that in heterosexual couples, about half the fertility problems are due to the male factor.

Till now, genetic studies have shown that, when a part of the DNA in the gene is mutated – damaged or changed, it brings about a permanent alteration to the physical composition and alters the genetic message carried by that gene. When both parents are carriers of a mutated gene, infertility occurs when the son receives both copies of the mutation.

However, there has been a recent breakthrough with research studies conducted by scientists of Newcastle University in the UK. They have found that new mutations, not inherited from either the father or the mother, have resulted in male infertility. They have discovered that mutations occurring during the reproducing process, when the DNA of both parents is replicated, can result in male infertility later on. This research was conducted by studies on DNA collected from an international cohort of 185 infertile men and their parents. 145 rare protein-altering mutations were identified which are likely to have a negative impact on male fertility. 29 of the mutations affect genes directly involved in spermatogenesis – sperm cell development – or other cell procedures relating to reproduction.

This major breakthrough gives new knowledge to understand causes for male infertility. It also results in hope for couples who have so far not been able to conceive. With this additional knowledge, perhaps more options can be given for the best treatment to deal with infertility.

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