researchers have found that Prader Willi syndrome, a complex genetic disorder
can be reversed in brain cells grown in the lab.
- 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
- Researchers say
that the current study has future benefits for kids with the condition.
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
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.’
inactive or silenced genes in a rare disease: A potential cure for Prader Willi
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.
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
- 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)