Silenced Genes Made Active Again Can Reverse Prader Willi Syndrome

Highlights:

Eliminating a protein called ZNF274 that inactivates genes in the maternal chromosome 15 of Prader Willi syndrome individuals can help cure the condition
Newborns with the genetic disorder Prader Willi experience weak muscles, poor feeding and slow development.
Researchers say that the current study has future benefits for kids with the condition.

Stem cell researchers have found that Prader Willi syndrome, a complex genetic disorder can be reversed in brain cells grown in the lab. The technique involved removing a protein in stem cells obtained from Prader Willi patients and then allowing the stem cells to develop into brain cells. The study is published in the journal, Human Molecular Genetics.

What is Prader Willi Syndrome?

Prader Willi Syndrome (PWS) is a genetic disorder that can affect different parts of the body. People with PWS present with short stature, low muscle tone, chronic hunger, slowed metabolism often leading to severe obesity and associated health issues. PWS can occur in boys and girls and is usually present at birth.

This genetic disorder is caused (in seventy percent of cases) by the deletion of a segment of the paternal chromosome 15 and where the maternal copy of the genes are turned off. The remaining twenty-five percent of the individuals with the syndrome have two maternal copies of chromosome 15 that are inactive.

‘Reversing the maternal copy of the inactive gene involved in Prader Willi Syndrome can offer a therapeutic approach for kids with the condition.’

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Reversing inactive or silenced genes in a rare disease: A potential cure for Prader Willi Syndrome

In the current study, Maeva Langouet, a post-doctoral fellow, Marc Lalande, professor of Genetics and Genome Sciences and other colleagues from the University of Connecticut worked on the zinc protein ZNF274 which solely silences the Prader Willi region of our DNA.

The researchers took stem cells from PWS patients who had the absent paternal chromosome 15 segment and deleted the protein ZNF274 from them. The stem cells were then conditioned to develop into normal neurons in the brain. The cells grew and developed normally and also expressed the maternal copy of the Prader Willi gene.

Prader-Willi Syndrome Symptoms Diagnosis Treatment Support Groups
Prader-Willi Syndrome (PWS) is a rare genetic disorder affecting multiple body systems. Prader-Willi syndrome occurs due to abnormalities of chromosome 15.

According to Langouet, it remains to be seen if knocking out ZNF274 has any other harmful effect on the body. Questions remain if this method works only on embryos or can it help in the normal development of the brain even after birth? However, for now, the researchers believe that this method can offer some benefits for kids suffering from Prader Willi in the future.

References:

Langouët, Maéva, Heather R. Glatt-Deeley, Michael S. Chung, Clémence M. Dupont-Thibert, Elodie Mathieux, Erin C. Banda, Christopher E. Stoddard, Leann Crandall, and Marc Lalande. "Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons." Human molecular genetics 27, no. 3 (2017): 505-515.
PWS BASIC FACTS - (https://www.pwsausa.org/basic-facts/)
PRADER-WILLI SYNDROME; PWS - (https://www.omim.org/entry/176270)

Source-Medindia

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