FLNA : filamin A
FLNA Gene: The Hidden Link to Heart Health & Other Surprising Conditions
The FLNA gene, encoding the filamin A protein, is a multitasking marvel within our genetic makeup. Traditionally known for its influence on brain development and skeletal formation, emerging research reveals its surprising connections to cardiovascular diseases and other health conditions.
Unveiling the FLNA Gene‘s Multifaceted Role
The FLNA gene acts as a blueprint for the filamin A protein, a crucial structural component within our cells. This protein helps maintain cellular shape and integrity, especially in tissues requiring both flexibility and strength. It‘s no wonder that filamin A plays a vital role in our brains, bones, and – as recent studies suggest – our hearts.
Beyond the Brain: FLNA and Cardiovascular Health
While FLNA mutations are well-known for causing brain malformations like periventricular nodular heterotopia (PVNH), their impact extends beyond the nervous system. Here‘s what scientists are discovering about the FLNA gene‘s connection to cardiovascular health:
- X-Linked Cardiac Valvular Dysplasia (XCVD): FLNA mutations account for 10-20% of XCVD cases, leading to thickened, dysfunctional heart valves.
- Aortic Aneurysms: Preliminary research suggests a potential association between FLNA alterations and an increased risk of aortic aneurysms.
- Pulmonary Arterial Hypertension (PAH): FLNA mutations have been linked to PAH in children, a serious condition marked by high blood pressure in the lungs.
FLNA‘s Expanding Influence on Health
Beyond cardiovascular diseases, the FLNA gene plays a role in other conditions:
- Otopalatodigital Spectrum Disorders (OPDS): A group of skeletal dysplasias characterized by malformations of the skull, face, hands, and feet.
- Melnick-Needles Syndrome (MNS): A rare, severe form of OPDS mainly affecting females.
- Epilepsy and Intellectual Disability: While not always present, some individuals with FLNA mutations may experience these neurological conditions.
