Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B
Clinical Genetics. December 17, 2012. doi: 10.1111/cge.12076
By: Irun P., Mallén M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala LA., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalón L., Giraldo P., Pocovi M.
For the full online text, click here.
By: Irun P., Mallén M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala LA., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalón L., Giraldo P., Pocovi M.
For the full online text, click here.
Niemann-Pick disease is an inherited disorder that is caused by the accumulation of lipids (fatty substances that store energy) in the brain, lungs, and liver. The disease results from a mutation in the SMPD1 gene, which is responsible for breaking down lipids. There are two types of Niemann-Pick disease that are caused by a mutation in this gene, and they each affect different organs in the body. Primary symptoms of the disease are lung infections or an enlarged spleen or liver. At this point, it is not well known how different mutations in this gene correlate to the various symptoms presented by Niemann-Pick patients. Given this, the goal of this study was to determine what kind of mutations in the gene cause these symptoms as well as determine where these mutations are located within the gene. In this study scientists found seven new mutations that play a role in causing Niemann-Pick disease. This is important for future studies that will help develop a treatment for Niemann-Pick.
Overall the study found that patients with the same mutation do not always have the same symptoms, which can affect clinical diagnosis. One patient could have an enlarged liver, while another has delayed development. The new mutations found add to over 100 other mutations that have been identified in Niemann-Pick disease. It can be difficult to classify people into the different types of Niemann-Pick because symptoms often overlap. An outcome from this research is that scientists developed a new category for people with symptoms of both disease types. This is important because limiting them to one disease type could limit what is being treated. Due to this research, it might become possible to identify the type of Niemann-Pick a patient has based on the mutation present in the gene, which can then lead to more effective care.
Overall the study found that patients with the same mutation do not always have the same symptoms, which can affect clinical diagnosis. One patient could have an enlarged liver, while another has delayed development. The new mutations found add to over 100 other mutations that have been identified in Niemann-Pick disease. It can be difficult to classify people into the different types of Niemann-Pick because symptoms often overlap. An outcome from this research is that scientists developed a new category for people with symptoms of both disease types. This is important because limiting them to one disease type could limit what is being treated. Due to this research, it might become possible to identify the type of Niemann-Pick a patient has based on the mutation present in the gene, which can then lead to more effective care.