I don't pretend to be an expert on the ciliopathies (not even on the internet) but there are a variety of different types of disorders because different types of cilia cells are located through the body.. Consider the following review article:
Armengot Carceller, M et al (2010). Primary ciliary dyskinesia. Ciliopathies Acta Otorrinolaringologica - English Edition 2010 Volume: 61 Issue: 2 Page: 149-159. The above is available in PDF form at: http://www.elsevier.es/sites/default/files/elsevier/pdf/102/102v61n02a13147310pdf001_2.pdf Table 1 identifies different types of cilia and their locations. Photoreceptor cilia serve as rods and cones while Kinocilia serve in the inner ear. I don't know but someone can check if someone who develops retinitis pigmentosa (an eye disorder) also develop hearing problems but at least one source points out that the defect that cause retinitis pigmentosa is related to the development of Senior–Løken syndrome, a kidney based disorder where the cilia suffer the same defect; see: http://ezproxy.library.nyu.edu:3659/doi/full/10.1056/NEJMra1010172 I'm only guessing but I think that reasonable general review of cilia and ciliopathy are provided in the following: http://jcb.rupress.org/content/180/1/17.long and http://www.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610 One final point, the little tail on sperm is also a cilia cell. -Mike Palij New York University [email protected] --------- Original Message ----------- On Tue, 04 Sep 2012 00:52:49 -0700, Mike Wiliams wrote: The main problem with these studies is the use of a pathology that does not exist in nature. The authors: "... the relevance of IFT88 mutations to human pathology is unknown." The logic follows the line that, "We produced a mouse that doesn't have protein IFT88 and this protein is necessary for cilia growth. We discovered that when we give the mouse a treatment that increases protein IFT88, they grow cilia". An IFT88 protein deficit is not a natural illness. It was apparently produced by a type of selective inbreeding. It reminds me of the attempts to treat scopolamine-induced memory disorder. A number of medications were effective but none panned out as effective with any naturally-occurring memory disorder. I wonder if the hearing and balance systems are poor in these mice. The cilia in these systems are much more important than smell. Mike Williams > Subject: What's That Smell? > From: Michael Palij<[email protected]> > Date: Mon, 3 Sep 2012 08:59:40 -0400 > > Some new research involving gene therapy in a mouse model shows > promise for treating a group of disorders called ciliopathies which are > dysfunctions of the cilia. Most psychologists are familiar with cilia > from the role they play in hearing, seeing, and smell. The new research > focuses on how to repair the cilia in mice that have genetically disabled > olfactory cilia, that is, mice who are born without a sense of smell. > If such gene therapy is effective in humans, then a number of ciliopathies > might be cured or significantly improved. > > The popular media has picked up on the story and here is one example > of their presentation: > http://www.bbc.co.uk/news/health-19409154 > > A pop science presentation on the Science Daily website is available > here (it provides much more detail and additional links): > http://www.sciencedaily.com/releases/2012/09/120902143147.htm > > Some of the researchers involved in the study are at the University > of Michigan and the U of M media office provided this press release: > http://www.uofmhealth.org/news/archive/201209/smell > > The original research is published in Nature Medicine: > http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.2860.html > > The reference for the article is: > > Jeremy C McIntyre, Erica E Davis, Ariell Joiner, Corey L Williams, > I-Chun Tsai, Paul M Jenkins, Dyke P McEwen, Lian Zhang, John > Escobado, Sophie Thomas, Katarzyna Szymanska, Colin A Johnson, > Philip L Beales, Eric D Green, James C Mullikin, NISC Comparative > Sequencing Program, Aniko Sabo, Donna M Muzny, Richard A Gibbs, > Tania Attié-Bitach, Bradley K Yoder, Randall R Reed, Nicholas Katsanis, > Jeffrey R Martens. (2012). > Gene therapy rescues cilia defects and restores olfactory function > in a mammalian ciliopathy model. > Nature Medicine, 2012; > DOI: 10.1038/nm.2860 > > I suspect that if this research is successful in humans, then olfactory > abilities lost to toxins and age might be successfully treated. It may > be particularly useful in the elderly who have developed a diminished > sense of smell. --- You are currently subscribed to tips as: [email protected]. To unsubscribe click here: http://fsulist.frostburg.edu/u?id=13090.68da6e6e5325aa33287ff385b70df5d5&n=T&l=tips&o=20199 or send a blank email to leave-20199-13090.68da6e6e5325aa33287ff385b70df...@fsulist.frostburg.edu
