Language
Country/Area
No result found
The Magic of Connecting Tissues: How Stickler's Disease Reveals the Secrets of Collagen
Stickler's disease is a group of rare genetic disorders that primarily affect connective tissue, especially collagen. It belongs to the subtypes of collagenopathies, specifically types II and XI. Characteristics of the disease include noticeable facial abnormalities, eye problems, hearing loss, and joint and bone problems. Stickler syndrome was first studied and described by Gunnar B. Stickler in 1965.
Symptoms and signs
People with Stickler syndrome may experience a wide range of symptoms. Some people may not have any noticeable symptoms, while others may experience almost all of the features. The severity of these features can range from subtle to severe. Distinctive facial features include a slightly flattened appearance of the face, which is caused by insufficient bone development in the midface, such as maldevelopment of the cheekbones and bridge of the nose.
A common physical feature in children with Stickler syndrome is known as the Pierre Robin sequence and primarily includes a U- or V-shaped cleft lip and palate, which results in a tongue that is too large to fit in with a small jaw. Space compatible.
Children with cleft lip and palate are prone to ear infections and sometimes have difficulty swallowing. Many people with Stickler disease have very severe myopia. This is due to the shape of the eyes, and patients with involved eyes are prone to increased intraocular pressure, which may lead to complications such as glaucoma and retinal detachment. Cataracts may also occur as part of the eye problems associated with Stickler's disease. Specific types of Stickler's disease are associated with the COL2A1 and COL11A1 genes, and those with the vitreous (the gel-like substance in the eye) have a characteristic appearance, while those with the COL11A2 gene are less susceptible to eye problems.
Reason
Stickler's disease is primarily caused by mutations in several collagen genes during fetal development. It is a sex-independent autosomal dominant trait, meaning a person with the syndrome will have a 50% chance of passing it on to each of their children. Three types of Stickler's disease have been identified, each associated with a different collagen synthesis gene.
Genetics
Mutations in the COL11A1, COL11A2, and COL2A1 genes are responsible for Stickler disease. These genes are involved in the production of type II and type XI collagen. Collagen is a complex molecule that provides structure and strength to connective tissue (the tissue that supports the body's joints and organs). Mutations in these genes disrupt the production, processing, or assembly of type II or type XI collagen, thereby affecting the development of bones and other connective tissues, leading to the features that characterize Stickler's disease.
It is unclear whether there are other unknown genes that may cause Stickler disease because not all patients have mutations in the three identified genes.
Diagnosis
Diagnosis of Stickler disease usually relies on symptoms, signs and family history. Based on genetic variations, Stickler syndrome can be divided into the following types:
- Stickler disease COL2A1 (75% of Stickler cases)
- Stickler's disease COL11A1
- Stickler disease COL11A2 (non-ocular form)
- Stickler disease COL9A1 (recessive variant)
- Stickler disease COL9A2 (recessive variant)
- Stickler disease COL9A3 (recessive variant)
- Stickler's disease LOX3 (recessive, 7 reported cases)
Whether there are two or three types of Stickler's disease remains controversial. As researchers learn more about genetic causes, the classification of these conditions continues to change.
Treatment
The many professionals involved in treating Stickler disease include anesthesiologists, oral and maxillofacial surgeons, craniofacial surgeons, otolaryngologists, ophthalmologists, optometrists, audiologists, speech-language pathologists , occupational therapists, physical therapists and rheumatologists, among others.
History
Scientists associated with the discovery of the syndrome include: B. David, Gunnar B. Stickler, G. Weissenbacher, and Ernst Zwimüller.
Conclusion
Stickler's disease not only reveals the importance of collagen in connecting tissue, but also serves as an important reminder for scientists working to understand genetic disorders. In the midst of these fragile hormones, how can we better protect and counsel these patients to improve their quality of life?
