Nav: Home

Defects in cellular antennae can cause a common heart condition

May 22, 2019

Katelynn Toomer and colleagues have discovered that defects in tiny, hair-like cellular structures can lead to mitral valve prolapse (MVP), a common heart disorder that affects up to one in 40 people worldwide. Their findings - based on a genetic analysis of a multigenerational family with an inherited form of the disease - identify a potential underlying cause of this widespread but little-understood condition. MVP usually causes only mild symptoms in patients, but in some cases it can result in abnormal heart rhythm and loss of heart function. Despite the disease's prevalence, scientists do not yet fully understand why MVP occurs or how it unfolds in the heart. In this study, Toomer et al. tracked the development of human and mouse mitral valves and discovered that a loss of cilia - antenna-like structures that receive signals from outside a cell - in valve tissue caused congenital defects that mirrored those seen in patients with MVP. They also studied gene expression in a multigenerational family (43 members), 11 of whom had an inherited form of MVP, as well as data from a previous genetic study of 1,412 MVP cases. The analysis revealed that the patients with MVP harbored a mutation in a gene named DZIP1 that normally guides proper cilia growth. Further experiments showed that mouse pups lacking DZIP1 displayed impaired formation of cilia during their development, which was followed by MVP and valve defects later in life. The study's insights into the genetic and cellular origins of MVP could facilitate the design of drug-based interventions for the condition, which can currently only be treated with surgery.
-end-


American Association for the Advancement of Science

Related Cilia Articles:

Why the Galapagos cormorant lost its ability to fly
A new study points to a number of genes that may underlie the loss of flight in the Galapagos cormorant.
Cilia structure plays a major role in determining susceptibility to neural tube defects
Research published online in The FASEB Journal shows that the improper methylation of a protein called 'Septin2,' which regulates the structure of cilia, was associated with an increased risk of having a neural tube defect (NTD) and confirms that cilia are important factors in determining susceptibility of NTDs.
Transport of molecular motors into cilia
Molecular motors produce the force that powers the beat of sperm cell tails to generate movement toward the egg cell for fertilization.
FASEB Science Research Conference: The Biology of Cilia and Flagella
Research on the biology of the cilium has seen explosive growth as its essential roles in cell signaling and human disease are now well recognized.
IFT20 protein's role in helping cancer cells to invade
An international research team has discovered that the IFT20 protein helps some cancer cells to invade by facilitating the transportation of membranes and proteins within parts of the cell.
More Cilia News and Cilia Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Teaching For Better Humans
More than test scores or good grades — what do kids need to prepare them for the future? This hour, guest host Manoush Zomorodi and TED speakers explore how to help children grow into better humans, in and out of the classroom. Guests include educators Olympia Della Flora and Liz Kleinrock, psychologist Thomas Curran, and writer Jacqueline Woodson.
Now Playing: Science for the People

#534 Bacteria are Coming for Your OJ
What makes breakfast, breakfast? Well, according to every movie and TV show we've ever seen, a big glass of orange juice is basically required. But our morning grapefruit might be in danger. Why? Citrus greening, a bacteria carried by a bug, has infected 90% of the citrus groves in Florida. It's coming for your OJ. We'll talk with University of Maryland plant virologist Anne Simon about ways to stop the citrus killer, and with science writer and journalist Maryn McKenna about why throwing antibiotics at the problem is probably not the solution. Related links: A Review of the Citrus Greening...