Not all in the genes: Are we inheriting more than we think?



Our knowledge of what can be inherited from our parents and how their life experiences may impact us could be completely rewritten if a fundamental finding concerning a factor driving healthy development in embryos were made.

According to recent findings, mother to child transmission of epigenetic information, which is generally reset between generations and sits on top of DNA, may occur more frequently than previously believed.

We now know a lot more about which genes are affected by the unusual epigenetic process that is passed from mother to child thanks to the study, which was directed by scientists from WEHI in Melbourne, Australia. We also now know more about which proteins are crucial for regulating this peculiar process.

One set of genetic instructions can produce hundreds of different cell types in our body, and epigenetics studies how our genes are turned on and off to do this.

Environmental factors, such as our nutrition, can affect epigenetic alterations, but DNA is not altered and epigenetic modifications are typically not transferred from parent to child.

Despite the fact that a small subset of "imprinted" genes can pass epigenetic information down the generations, very few additional genes have up until this point been demonstrated to be impacted by the mother's epigenetic state.

The availability of a certain protein in the mother's egg can have an impact on the genes that control the skeletal patterning of offspring, according to recent research.

The team was originally taken aback by the findings, according to lead investigator Professor Marnie Blewitt.

Because our result was unexpected, Professor Blewitt, Joint Head of the Epigenetics and Development Division at WEHI, commented, "It took us a while to process."

"Knowing that the mother's epigenetic information can affect how the body patterns and have long-lasting repercussions is fascinating since it shows this is happening far more frequently than we previously imagined.

"It might reveal what other epigenetic information is being inherited, like a Pandora's box."

The research was conducted by WEHI and published in Nature Communications in conjunction with Associate Professor Edwina McGlinn of Monash University and The Australian Regenerative Medicine Institute.

The current study concentrated on the Hox genes, which are essential for typical skeletal growth, and the protein SMCHD1, an epigenetic regulator identified by Professor Blewitt in 2008.

In mammalian embryonic development, hox genes regulate the identity of each vertebrate while the epigenetic regulator prevents these genes from becoming active too early.

According to the findings of this study, the quantity of SMCHD1 in the mother's egg affects the activity of the Hox genes and the patterning of the embryo. Offspring were conceived without maternal SMCHD1 and were born with altered skeletal structures.

This is unmistakable proof, according to the first author and PhD researcher Natalia Benetti, that epigenetic information rather than only blueprint genetic material was passed from the mother.

Despite the fact that our genome contains more than 20,000 genes, only a small subset—roughly 150 imprinted genes—and a very small number of others have been demonstrated to pass epigenetic information from one generation to the next, according to Benetti.

It's fascinating to learn that this is also happening to a group of crucial genes that have been evolutionarily conserved from flies to humans.

The study demonstrated that SMCHD1, which is only present in the egg for two days after conception, has a long-lasting effect.

Facioscapulohumeral muscular dystrophy (FSHD), a kind of muscular dystrophy, and the developmental condition Bosma arhinia microphthalmia syndrome (BAMS) are both associated with variations in SMCHD1. According to the researchers, future generations of women with SMCHD1 mutations and their offspring may be affected by their findings.

The team's understanding of SMCHD1 is currently being used by WEHI to create novel medicines for the treatment of developmental illnesses such Prader Willi Syndrome and the degenerative disorder FSHD.

The NHMRC, a Bellberry-Viertel Senior Medical Research Fellowship, the Victorian Government, and the Australian Government all provided funding for the study. Authors of WEHI include Tamara Beck, Kelsey Breslin, Andrew Keniry, Marnie Blewitt, Quentin Gouil, and Andres Tapia del Fierro.

Walter and Eliza Hall Institute

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