Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions.
| Autor: | Ikrama M; Services Institute of Medical Sciences, Jail Road, Lahore 54000, Pakistan., Usama M; Services Institute of Medical Sciences, Lahore, Pakistan., Haider MH; Services Institute of Medical Sciences, Lahore, Pakistan., Israr S; Services Institute of Medical Sciences, Lahore, Pakistan., Humayon M; Services Institute of Medical Sciences, Lahore, Pakistan. |
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| Jazyk: | angličtina |
| Zdroj: | Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Oct 31; Vol. 5, pp. 26330040241292378. Date of Electronic Publication: 2024 Oct 31 (Print Publication: 2024). |
| DOI: | 10.1177/26330040241292378 |
| Abstrakt: | Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder affecting the autonomic nervous system, leading to an inability to feel pain, temperature, or sweat1. This condition is caused by mutations in the NTRK1 gene, which encodes a receptor for nerve growth factor (NGF). The lack of NGF signaling results in the improper development and function of sensory and sympathetic neurons. Patients with CIPA often suffer from repeated injuries, infections, and hyperthermia due to their inability to sense pain and regulate body temperature. Management focuses on preventing injuries, controlling infections, and providing supportive care, as there is no definitive cure for CIPA. We present several hypotheses for treating CIPA using stem cells and modern genetic techniques. One approach involves using induced pluripotent stem cells (iPSCs) to replace defective neurons. Another hypothesis suggests in vivo gene editing of neural progenitors to restore TrkA function. Additionally, mesenchymal stem cells (MSCs) genetically modified to overexpress NGF could provide trophic support. Other strategies include epigenetic modulation of NTRK1 expression and exosome-mediated gene therapy. These innovative approaches aim to address the underlying genetic defects and restore normal cellular functions in CIPA patients. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s), 2024.) |
| Databáze: | MEDLINE |
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