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Researchers have defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys.
Lead author Dr. Dolores Lamb, director of the Center for Reproductive Medicine at Baylor, professor and vice chair for research of urology and molecular and cellular biology at Baylor, asid cryptorchidism and hypospadias are among the most common birth defects but the causes are usually unknown.
Cryptorchidism is characterized by the failure of descent of one or both testes into the scrotum during fetal development. In the adult man, the testes produce sperm and the male hormone, testosterone. Hypospadias is the abnormal placement of the opening of the urethra on the penis.
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Both birth defects are usually surgically repaired during infancy.
Lamb and colleagues used a method of genome wide screening (essentially a molecular karyotype) called array comparative genomic hybridization to study children with these defects. The method looks specifically at changes in chromosomal regions that have undergone duplication or deletions too small to see under a microscope, termed copy number variations.
These genomic changes can alter gene dosage (gene gains or losses) resulting in a change in cell function.
In its analysis, the team showed that the cause of these birth defects in a subset of children with these defects of testis and penile development resulted from a change in the number of copies of a gene, VAMP7.
The role of VAMP7 gene duplication in causing these male birth defects was important because of the type of protein family it belongs to - it is a SNARE (Soluble N-ethylmaleimide-sensitive factor activating protein receptor) protein (a large protein superfamily consisting of more than 60 members in yeast and mammalian cell), Lamb said.
The report has been published in the journal Nature Medicine.
Infertility refers to the inability to have children. It can be divided into two broad categories primary and secondary infertility. Primary infertility refers to the inability to ever have a child. Secondary infertility refers to those cases where people have had children but fail to conceive after that.
The reasons may be acquired, genetic or influenced by lifestyle. Infertility affects men and women all around the world and is the cause of many cultural and social stigmas.
The countries with the lowest rates of female infertility are in the South American continent. It is estimated that approximately 3 to 7% of all couples worldwide suffer from infertility. Infertility has increased since the 1980s and the rate increases in proportion with the age of men and women. 40% of all issues with infertility are diagnosed in men, an equal number in women, and 20% due to complications in both partners.
Acquired female infertility is spurred on by age, tobacco smoking, diabetes, STDs, body-weight and eating disorders. The same account to male fertility with the addition of testicular factors, trauma and impotence. A blood and/or semen test can decidedly provide results and determine treatment for the same. Semen analysis, Hormone measurements hysterosalpingography and Laparoscopy are some tests that can be taken to determine infertility and its reasons.
Infertility among women can be treated up to some extent. Clomifene tablets are prescribed to women with normal estrogen levels to induce ovulation. Gonadotrophin injections are used for women that have failed to respond to clomifene or are not suitable for it. Another popular option is In Vitro Fertilization (IVF). Chances of a multiple birth increase slightly in IVF. Intra-cytoplasmic sperm injection is a remedy to treat male fertility. It is very similar to IVF except that the single sperm is injected directly into the egg. Apart from these, donor insemination and egg donation are methods to induce a pregnancy.
With inputs from ANI
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