Role of Genetics & Fellowship in Reproductive Medicine in India
Role of Genetics & Fellowship in Reproductive Medicine in India
Blog Article
In this article, let's try to understand the role of genetics in infertility. Genetics plays a crucial role in infertility, impacting both male and female reproductive systems. And, also is an important topic in the curriculum for Fellowship in Reproductive Medicine.
Infertility can arise due to a variety of genetic factors including chromosomal abnormalities, gene mutations and polymorphisms. Understanding these genetic influences is very essential for diagnosing and treating infertility.
Genetic factors associated with male infertility
Chromosomal abnormalities - Klinefelter’s syndrome which is 47XXY: Here we have an extra chromosome in these males who are having XY but an additional X chromosome is also present. This is one of the most common genetic causes of male infertility. Men with Klinefelter’s syndrome typically have small testes, low testosterone levels and azoospermia which is absence of sperm. Then there are Y chromosome microdeletions. Deletions in the AZF which is the azoospermia factor region on the Y chromosome can lead to severe oligospermia which is also low sperm count or azoospermia.
The AFC region which is azoospermia factor C region is the most commonly affected area. Then there are gene mutations like CFTR gene mutation. Mutations in the CFTR gene responsible for cystic fibrosis can also cause congenital bilateral absence of the vas deferens.
Vas deferens connects the testes to the tract that leads the sperms outside. So CBAVD is what it is also known as. It leads to obstructive azoospermia as in sperms are there but they are being obstructed because they are not able to come out of the testes travel and come out in the ejaculate.
AR gene mutations
Mutations in the androgen receptor AR gene can result in androgen insensitivity syndrome called as AIS which affects male sexual development and fertility. You also have to talk about polymorphism and in that we should definitely mention single nucleotide polymorphisms SNPs.
This occurs in various genes can influence sperm quality and reproductive potential. For instance polymorphisms in the FSH receptor gene can affect sperm production because FSH then will not be regulated properly in the male. There are genetic factors in female as well as we have discussed in male infertility.
Chromosomal abnormalities also are included in these and will begin with Turner's syndrome. It is 45X. So it is 45 not 46. This means that one chromosome is short which goes to say some chromosome has to be short. In these patients in these women in Turner's syndrome women there is a shortage of X chromosome. So instead of being in pair there is only single X chromosome.
Women with Turner's syndrome have a single X chromosome and these women often experience primary ovarian insufficiency as in it doesn't function to its potential. Ovaries don't function to their potential and this can lead to infertility. Then comes Fragile X syndrome FMR1 gene.
Premutation carriers of the FMR1 gene can develop into Fragile X associated primary ovarian insufficiency called as FXPOI. This disorder causes early menopause and infertility. There are gene mutations also occurring in females.
BRCA1 or BRCA2 mutations in these genes known for their role in breast and ovarian cancer have also been linked to reduced ovarian reserve and infertility. FMR1 gene also is responsible for mutations in the FMR1 gene cause Fragile X syndrome which can lead to ovarian dysfunction in carriers. Polymorphism can also occur in females.
PCOS - Polycystic Ovarian Syndrome
Polymorphisms in genes involved in hormone regulation such as FSH receptors and LH receptor genes can affect ovarian function and response to fertility treatments. There are some multifactorial and complex traits also like polycystic ovarian syndrome. PCOS is common cause of female fertility and has a strong genetic component.
Variants in genes involved in insulin resistance, androgen biosynthesis and inflammatory pathways are implicated in PCOS. Endometriosis also has a hereditary component with certain genetic variants increasing the risk. Genes involved in immune response, inflammation, estrogen metabolism can play a role in pathogenesis of endometriosis.
Epigenetics also has an effect on infertility. DNA methylation is one of them. Abnormal DNA methylation pattern can affect gene expression and contribute to infertility.
For example, aberrant methylation of imprinted genes can result in disorders such as Prader-Willi and Angelman syndrome which are associated with reproductive issues. Then histone modifications also occur. Changes in histone acetylation and methylation can influence chromatin structure and gene expression impacting gametogenesis and embryo development.
But are there any diagnostic and therapeutic approaches? Of course there are. There are some genetic testing’s that can be performed. Karyotyping is one of them.
Karyotyping
It is used to identify chromosomal abnormalities in both men and women. Then comes Y-chromosome microdeletion testing. These are performed for men with severe oligozoospermia or azoospermia.
CFTR gene mutation analysis is done for men with CB-AVD or suspected CB-AVD. Genetic counselling is very essential for couples with known genetic disorders or recurrent pregnancy losses. Pre-implantation genetic testing is also a very good tool within assisted reproductive technologies.
It is performed with IVF or ICSI. It is used to screen embryos for genetic abnormalities before implantation. However, ICSI is supposed to be performed in these cases.
Intracytoplasmic sperm injection because it is beneficial for such cases. Also, it is good for men with genetic causes that have low sperm count or motility. Gene therapy and advanced treatments are also available. Ongoing research aims to develop gene therapy approaches to correct specific genetic defects causing infertility. If you wish to know more about this, please feel free to contact us.
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