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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia - PubMed
Source: pubmed.ncbi.nlm.nih.gov
Article summary:
1. Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities.
2. Dominant mutations in the gene encoding TRPV4 were identified in 10 cases of metatropic dysplasia, ranging from mild to perinatal lethal.
3. Electrophysiological studies demonstrated that the mutations activate the channel, indicating that the mechanism of disease may result from increased calcium in chondrocytes.
Article analysis:
The article “Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia” is an informative and reliable source of information on metatropic dysplasia and its associated mutations in the TRPV4 gene. The article provides detailed descriptions of the clinical features of metatropic dysplasia as well as evidence for its genetic basis through mutation analysis of 10 cases ranging from mild to perinatal lethal forms of the disorder. The authors also provide evidence for their hypothesis that altered chondrocyte differentiation in the growth plate leads to the clinical findings in metatropic dysplasia through electrophysiological studies demonstrating that the mutations activate the channel, indicating that increased calcium levels in chondrocytes may be responsible for this disorder. Furthermore, histological studies are provided which further support this hypothesis.
The article does not appear to have any major biases or one-sided reporting; it presents both sides equally and does not make any unsupported claims or omit any points of consideration or evidence for its claims made. It also does not contain any promotional content or partiality towards either side of an argument, nor does it fail to note possible risks associated with its findings. All data presented is supported by evidence and all claims are backed up by research results or other sources of information. In conclusion, this article can be considered a trustworthy and reliable source on metatropic dysplasia and its associated mutations in TRPV4 gene.