Talk:Ciliopathy

Kartagener's is a known ciliopathy

Primary ciliary dyskinesia (immotile-cilia syndrome)

Authors : Bjorn A Afzelius, PhD; Sten-Erik Bergström, MD /=/ Section Editor : Talmadge E King, Jr, MD /=/ Deputy Editor : Helen Hollingsworth, MD

Last literature review version 16.1: January 2008 | This topic last updated: February 8, 2008 (More)

INTRODUCTION — Primary ciliary dyskinesia (PCD, also called the immotile-cilia syndrome) is characterized by congenital impairment of mucociliary clearance (MCC) [1,2] . Clinical manifestations include chronic cough, chronic rhinitis, and chronic sinusitis. Otitis and otosalpingitis are common in childhood, as are nasal polyposis and agenesis of the frontal sinuses. The underlying cause is a defect of cilia in the airways, making them unable to beat (ciliary immotility), unable to beat normally (ciliary dyskinesia), or to be missing altogether (ciliary aplasia). It is an inherited disease that has been described from most parts of the world and with equal prevalence in men and women of approximately one in 10,000 to 30,000 individuals [3-5] .

Because the embryonic, nodal cilia are also defective, body asymmetry is randomized so that 50 percent of the patients have situs inversus totalis [6,7] . When situs inversus, chronic sinusitis, and bronchiectasis occur together, an individual is said to have Kartagener's syndrome, a subgroup of primary ciliary dyskinesia that has a prevalence of around one in 20,000 to 40,000 individuals [5] . Bronchiectasis may develop in young persons but is never present at birth; thus, no individual is born with a developed Kartagener's triad.

PATTERN OF INHERITANCE — Primary ciliary dyskinesia is inherited as an autosomal recessive disease [8] . It is a highly heterogeneous syndrome because it can be caused by a defect in any of the many polypeptide species within the axoneme of cilia (or sperm flagella), in other proteins that are present in the ciliary membrane and matrix, or in those needed for the proper assembly of cilia [9] . Different components may be missing or defective in different patients, and different clinical manifestations may develop depending upon the exact nature of the lesion. In addition, different families may have different mutated genes even though clinical symptoms are identical.

Extensive locus heterogeneity of primary ciliary dyskinesia is suspected, but in some cases it has been possible to identify a specific chromosomal locus and gene product [10,11] . As an example, a locus on chromosome 5p encoding an axonemal dynein heavy chain protein called DNAH5 was isolated on the basis of linkage analysis from 25 separate families [11] . From this group, four homozygous and six heterozygous mutations of DNAH5 were identified, all in association with clinical primary ciliary dyskinesia and ultrastructurally abnormal outer dynein arms. Complete absence of DNAH5 along the ciliary axoneme results in immobility, while absence of DNAH5 in the distal portion of the axoneme causes impaired mobility [12,13] .

The trait of situs inversus apparently has an element of random determination [3] . Rather than having one gene for situs solitus (organs in their normal position) and one for situs inversus, the nodal cilia of the embryo are responsible for controlling the normal position of heart and visceral organs, and without such control there is an equal chance of situs inversus and situs solitus. Two pairs of monozygotic twins with primary ciliary dyskinesia have been identified; in each pair there was one twin with situs inversus and one with situs solitus [14] .

Recent science -- another source for more info

This info is not yet reflected in the article. Later today, after making some edits to the ciliopathy article, I discovered another useful source, an excellent edited book entitled "Obesity : Genomics and Postgenomics" (published in 2008) with an excellent chapter on ciliopathies. The specific article is Bardet-Biedl Syndrome : New Insights into Ciliopathies and Oligogenic Traits. Among other things, this chapter suggests that BBS is a ""model ciliopathy" (pp 201) which is allowing further progress in understanding all ciliopathies. The full, ready-to-use citation for the article is here: Included in the reference is a citation to Google Books where the book chapter may be freely read online. Others may, of course, use this information to improve the Wikipedia article. In fact, this is encouraged. N2e (talk) 23:26, 1 July 2009 (UTC)

Thanks... See also :
Alejandro Burga, Weiguang Wang, Eyal Ben-David, Paul C. Wolf, Andrew M. Ramey, Claudio Verdugo, Karen Lyons, Patricia G. Parker, Leonid Kruglyak (2017) ; [A genetic signature of the evolution of loss of flight in the Galapagos cormorant] ; Science ; 2 Juin 2017: Vol. 356, Issue 6341, eaal3345 DOI: 10.1126/science.aal3345
--Lamiot (talk) 08:46, 3 June 2017 (UTC)

References

A better, non-technical explanation

Someone with knowledge of this topic should rewrite the opening paragraph and perhaps other sections. Ciliopathy seems rather interesting, but the article doesn't really explain the mechanism by which defects to cilia cause other symptoms. It seems the mechanism is unknown, but it is said to be a "subject of current research," so there must be some theories on the topic. The article should also describe the method by which physicians/geneticists/whatever can detect and link syndromes and other disorders by examining cilia.

As is, the article basically says "these are cilia" and then "this is what syndromes they cause." After reading the article, I still have little idea how we got from point A to point B. 98.117.56.217 (talk) 22:35, 13 August 2012 (UTC)

I attempted a fix in the 2nd paragraph, alone the lines of ... cilia are important in guiding embryonic development in many places in the body, so if they don't work then you end up with malformations in a characteristic set of locations around the body. Klbrain (talk) 20:26, 10 April 2018 (UTC)

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