Researchers 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, scientists 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 deleterious missense 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.
https://stm.sciencemag.org/content/11/493/eaax0290
Defects in cilia can cause a common heart valve condition
- 1,390 views
- Added
Edited
Latest News
Brain hormone regulate both…
By newseditor
Posted 17 Mar
Blocking long non-coding RN…
By newseditor
Posted 17 Mar
Artificial intelligence and…
By newseditor
Posted 17 Mar
Blood-brain barrier protein…
By newseditor
Posted 17 Mar
Preventing heart attacks an…
By newseditor
Posted 17 Mar
Other Top Stories
A single vaccine to treat different strains of Ebola virus
Read more
Severe brain malaria has red blood cells containing the parasite st…
Read more
Food allergy protection by intestinal bacteria in healthy infants
Read more
Inhibiting Ebola Virus Replication!
Read more
Intestinal infection triggers Parkinson's like symptoms
Read more
Protocols
Integration of Kupffer cell…
By newseditor
Posted 18 Mar
A mouse DRG genetic toolkit…
By newseditor
Posted 17 Mar
An optogenetic method for t…
By newseditor
Posted 13 Mar
Profiling native pulmonary…
By newseditor
Posted 08 Mar
Neuromuscular organoids mod…
By newseditor
Posted 06 Mar
Publications
Synaptopathy: presynaptic c…
By newseditor
Posted 18 Mar
Allergic Rhinitis
By newseditor
Posted 18 Mar
ALK upregulates POSTN and W…
By newseditor
Posted 18 Mar
PRODH safeguards human naiv…
By newseditor
Posted 18 Mar
Secretin-dependent signals…
By newseditor
Posted 17 Mar
Presentations
Hydrogels in Drug Delivery
By newseditor
Posted 12 Apr
Lipids
By newseditor
Posted 31 Dec
Cell biology of carbohydrat…
By newseditor
Posted 29 Nov
RNA interference (RNAi)
By newseditor
Posted 23 Oct
RNA structure and functions
By newseditor
Posted 19 Oct
Posters
A chemical biology/modular…
By newseditor
Posted 22 Aug
Single-molecule covalent ma…
By newseditor
Posted 04 Jul
ASCO-2020-HEALTH SERVICES R…
By newseditor
Posted 23 Mar
ASCO-2020-HEAD AND NECK CANCER
By newseditor
Posted 23 Mar
ASCO-2020-GENITOURINARY CAN…
By newseditor
Posted 23 Mar