The cause behind two types of birth defects found in newborn boys, which was previously unknown, has now been found by the researchers.
The lead author of the study Dr. Dolores Lamb, director of the Center for Reproductive Medicine at Baylor, professor and vice president of research of urology and molecular and cellular biology at Baylor told that cryptorchidism and hypospadias are one of the most common birth defects but, their cause in not known usually.
While cryptorchidism can be recognized by the failure of descent of one or both testes into the scortum during the development stage of the fetal, the other disorder hypospadias is the improper positioning of the opening of the urethera on the penis. The testes in an adult man play the role of producing sperms and the male hormones called the testosterone.
Both the defects are normally corrected through a surgery during infancy.
In order to study the children with the defects, Lamb and other researchers adopted a method of genome wide screening called array comparative genomic hybridization.
The adopted method observed specially the changes in chromosomal regions that have undergone duplication or deletions which were too small to appear under a microscope and were termed as copy number variations.
These changes have the ability to introduce a change in the cell function by altering the gene dosage (gene gains or losses).
The analysis made in the study showed that the change in the number of copies of a gene, VAMP7 caused these birth defects in a set of infants who were born with problems in their testes and penile development.
According to Lamb, the importance of VAMP7 gene duplication in leading to these male child defects was due to the type of protein
family it belongs to. It is a SNARE (Soluble N-ethylmalemide-sensitive factor activating protein receptor) protein (a large protein superfamily consisting of more than 60 members in yeast and mammalian cell).
This study has been published in the journal Nature Medicine.
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News source: zeenews.india.com
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