Chasing the ghost in the code: highlighting the mystery of a rare genetic condition.
WHY IT MATTERS
Understanding how NKCC1 mutations cause disease could lead to new treatments for patients with this rare genetic condition, moving beyond just managing symptoms.
Scientists studied a young girl with a rare genetic condition for 23 years to understand how a mutation in a gene called NKCC1 affects her health. NKCC1 is a protein that helps move salt and water in and out of cells. Researchers used her cells, lab-grown cells with the mutation, and mice with the same genetic change to figure out how this mutation causes her symptoms.
Chasing the ghost in the code: highlighting the mystery of a rare genetic condition. Abstract: Here, we recount the story of a remarkable young girl who demonstrated extraordinary courage and resilience while confronting significant health challenges over the span of 23 years. Her journey is a testament to her determination to survive and thrive despite overwhelming obstacles. We detail the investigative efforts aimed at associating her clinical symptoms with a specific membrane transporter: the Na-K-2Cl cotransporter-1 (NKCC1), which this laboratory has dedicated more than three decades to studying. The work summarized here covers experiments using patient-derived cells, cells engineered to express wild-type or mutant cotransporter, and genetically modified mice carrying this patient-specific alteration. It is illuminated by reports of other rare human deleterious mutations, and wo Authors: Delpire Journal: American journal of physiology. Cell physiology MeSH: Humans, Solute Carrier Family 12, Member 2, Animals, Female, Mutation, Mice, Rare Diseases, Mice, Knockout, Energy Metabolism