Does This Protein Play a Role in Prader-Willi Syndrome?

According to a story from BioNews, a recent study has revealed more information about the maternal protein SMCHD1, and impacts to the normal function of this protein could play a role in the development of certain genetic disorders such as Prader-Willi syndrome. SMCHD1 is present during the early developmental stages of the embryo and was found to be important in genomic imprinting.

About Prader-Willi Syndrome (PWS)

Prader-Willi syndrome is a genetic disorder which is most characterized by childhood obesity that results from an abnormal, insatiable appetite. This obesity often continues into adulthood. In most cases, the syndrome is caused by the deletion of a certain section of chromosome 15. In about a quarter of cases, the patient receives two copies of chromosome 15 from the mother but gets none from the father. This syndrome is not considered heritable, as the genetic changes occur during gestation. Symptoms of Prader-Willi syndrome include slow development, poor feeding, muscle weakness, obesity, over-eating, abnormal flexibility, scoliosis, sleeping excessively, speech delays, intellectual disability, poor muscle tone, delayed puberty, and infertility. Excessive eating also leads to elevated risk of diabetes. Management may include physical, occupational, and speech therapy, limiting access to food, and injections of growth hormone (in child patients only). To learn more about Prader-Willi syndrome, click here.

Genomic Imprinting

Genomic imprinting is the process that determines whether the mother or father’s variant of a given gene is silenced or inactivated. The research team was able to identify ten different genes that were silenced by the protein. Imprinting is only relevant for a small set of genes, but it is a natural component of the developmental process and plays an essential role in the embryo’s development. Only proteins from the mother are known to be used in imprinting, and this study was the first time that this role was discovered in SMCHD1. 

Prader-Willi syndrome, while a genetic disorder, is not generally considered inherited, but has instead been linked to dysregulation of genomic imprinting. There are other disorders in which a similar mechanism has been found. The scientists say that SMCHD1 could be a potential therapeutic target in the future. Senior author and Professor Marnie Blewitt summarized the findings:

“While the effects we discovered were subtle, we know that events occurring in early embryonic development can have long-term effects on health. As well as extending our understanding of genomic imprinting, this research adds an extra dimension to the many ways we know parents can impact their offspring’s health.”

Check out the original study in eLife.

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