Nonsyndromic male infertility related CATSPER1 (CATSPER1-related nonsyndromic male infertility) - Gen CATSPER1            

Non - syndromic male infertility related to CATSPER1 is a disorder that affects the function of sperm, leading to infertility. Affected males produce sperm with reduced motility, which are abnormally, or have a reduction in sperm cell production. These individuals do not show other symptoms related to the condition.

This process is due to mutations in the CATSPER1 (cation channel associated sperm 1) gene, located on the long arm of chromosome 11 (11q12.1), which encodes a protein found in sperm cells. The CATSPER1 protein plays a role in sperm motion and is necessary for them to cross the membrane of the egg during fertilization. The CATSPER1 protein is located in the membrane of the sperm cells and is necessary for calcium cations into the cell. Calcium cations for sperm hyperactivity required, necessary for the sperm to pass through the membrane of the egg during fertilization.  

They have been described at least two mutations in the gene responsible for non - syndromic CATSPER1 male infertility related CATSPER1. It is believed that these mutations result in the synthesis of a protein CATSPER1 may be altered, not be functional, or degrade rapidly. A deficiency or absence of functional protein CATSPER1 affects the entry of calcium into the sperm cell, reducing motility and prevents hyperactivity. Therefore, the sperm can not pass through the membrane of the egg and fertilize it . These abnormalities in sperm are the reason for infertility in men affected. Male infertility is the only symptom of non - syndromic male infertility related to CATSPER1.

This process is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease. Males with two mutations CATSPER1 gene in every cell have nonsyndromic male infertility related CATSPER1. Women with two mutations of the gene in each cell CATSPER1 no symptoms because mutations only affect sperm function.

Tests in IVAMI: in IVAMI perform detection of mutations associated with non - syndromic male infertility related CATSPER1 by the complete PCR amplification of exons CATSPER1 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).