A study has revealed that a mutation in the NKAP gene causes
a rare syndrome, providing researchers with the potential to develop treatments
for the condition.
Researchers have identified a gene mutation that causes
developmental delay, behavioural abnormalities and musculoskeletal problems in
children. The team believe that this discovery could lead to therapeutic
strategies to combat NKAP-related syndrome.
The study was conducted at the Children’s Hospital of
Philadelphia, US. The researchers revealed how mutations to the NKAP gene
disrupts transcription, when DNA is converted into RNA.
Performing exome sequencing on 10 patients, all children and
young adults with the symptoms, the researchers identified the mutation on the
X chromosome. As the NKAP mutation is consistent with an X-linked recessive
condition, only males display the phenotype.
Further examination revealed that transcription disruption
patterns were similar in the patients; a higher proportion of genes were
downregulated than upregulated. In zebrafish models, the team showed there were
similar effects from an analogous mutated gene.
“As my lab continues to explore the function of NKAP in our
bodies, we aim to discover clues for future treatments,†said study leader Dr
Kosuke Izumi, MD, a clinical geneticist and genetics researcher at Children’s
Hospital of Philadelphia.
The team have also initiated a registry to collect clinical
information on patients with the condition. According to the researchers,
investigating the biological mechanisms of this syndrome may allow them to
discover a molecular pathway to target in future treatments.
From source: https://www.drugtargetreview.com/news/50423/nkap-gene-mutation-linked-to-rare-developmental-disease/
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