Genes are the fundamental instructions that guide the development and function of every cell. CRELD1 is one specific gene that plays a role in various biological processes. Understanding genes like CRELD1 helps us unravel human biology and how small changes can influence our health.
The Nature of CRELD1
CRELD1, or Cysteine-Rich, EGF-Like, Domains 1, is a protein-coding gene located on the short arm (p) of chromosome 3, specifically in the 3p25.3 band.
The CRELD1 protein features epidermal growth factor (EGF)-like repeats, a type of cysteine-rich domain. These domains facilitate protein interactions and are found in proteins secreted from cells or anchored to the cell surface. As a matricellular protein, CRELD1 interacts with the extracellular matrix, which provides structural and biochemical support to surrounding cells.
CRELD1’s Biological Role
The CRELD1 protein participates in several cellular processes as a cell adhesion molecule. This means it helps cells adhere to each other and their environment, which is fundamental for tissue formation and maintenance. Its involvement in cell adhesion influences cell migration and cell signaling.
The protein’s function also extends to developmental processes, particularly heart formation. CRELD1 is involved in the development of endocardial cushions and cardiac septa. Its role in calcium ion binding suggests a broader influence on cellular regulation. Through these interactions, CRELD1 contributes to the proper assembly and organization of tissues throughout the body.
CRELD1 and Disease
Alterations or mutations in the CRELD1 gene have been linked to several health conditions, primarily affecting heart development and neurological function. One recognized association is with atrioventricular septal defect (AVSD), a type of congenital heart defect. Impaired CRELD1 function can disrupt the normal formation of the cardiac septa, leading to these structural abnormalities.
Beyond heart defects, changes in both copies of the CRELD1 gene can result in a rare genetic disorder known as Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS). This multisystem disorder can manifest with a wide array of symptoms, including:
Neurodevelopmental challenges ranging from mild movement disorders to significant cognitive and developmental delays.
Severe, frequent, and treatment-resistant epileptic seizures.
Adrenal insufficiency.
Severe bilateral neural hearing loss.
Immature eye development.
Acute respiratory distress.
Submucosal cleft palate.
Looking Ahead: Research and CRELD1
Current research on CRELD1 is focused on gaining a deeper understanding of its precise functions and how its dysregulation leads to disease. Scientists are studying the gene to identify new types of sequence changes that might cause genetic disorders, especially those affecting multiple body systems. This work helps to delineate the full spectrum of conditions associated with CRELD1 variants.
The ongoing research is also contributing to the development of improved diagnostic tools. As more is learned about CRELD1-related disorders, it becomes easier to identify the gene on genetic testing panels, allowing for earlier and more accurate diagnoses. Scientists are also exploring potential therapeutic strategies that might target CRELD1 or its related pathways to address the symptoms or underlying causes of these conditions. This forward-looking research holds promise for new insights into human health and potentially new interventions.