TLDR Cantú syndrome is caused by mutations in the ABCC9 gene.
Cantú Syndrome was found to be caused by mutations in the ABCC9 gene, which encodes the sulfonylurea receptor (SUR2) part of ATP-sensitive potassium channels (KATP channels). The study identified 11 mutations in ABCC9 among 14 individuals, with many affecting the Arg1154 residue in exon 27, indicating a dominant disease mechanism. These mutations led to overactivation of KATP channels, similar to mechanisms in neonatal diabetes caused by ABCC8 mutations. This discovery provided a clear genetic basis for Cantú Syndrome, characterized by congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly, and suggested potential therapeutic strategies targeting KATP channels.
397 citations,
February 2004 in “British Journal of Dermatology” Minoxidil boosts hair growth by opening potassium channels and increasing cell activity.
33 citations,
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June 1988 in “PubMed” Minoxidil sulfate relaxes muscle by increasing potassium flow, making it a unique muscle relaxer.
14 citations,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
7 citations,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
3 citations,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
