Final answer:
Diseases due to abnormal collagen formation include Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Loeys-Dietz syndrome, among others. These genetic disorders affect connective tissues, leading to symptoms like fragile blood vessels, organ issues, and brittle bones.
Step-by-step explanation:
Diseases Due to Abnormal Collagen Formation
Several diseases are due to abnormal collagen formation, and among the common ones are:
- Ehlers-Danlos syndrome (EDS): A genetic disorder where type-III collagen is deficient, leading to skin and vascular issues.
- Osteogenesis imperfecta (brittle bone disease): An inherited disorder characterized by easily bent or fractured bones due to defects in collagen production and processing.
- Marfan syndrome: A genetic disease causing abnormal fibrillin which affects the connective tissue.
- Loeys-Dietz syndrome: Related to Marfan syndrome, with a focus on vascular deterioration.
- Pseudoxanthoma elasticum: A hereditary disease affecting the skin, eyes, and cardiovascular system due to calcification and fragmentation of elastic fibers.
- Systemic lupus erythematosus: A chronic inflammatory disorder of probable autoimmune etiology.
These diseases exhibit a range of symptoms from fragile blood vessels and organs to weakened bones, and they have a genetic basis affecting the transcription or translation of genes responsible for collagen synthesis. Deficiencies or mistakes in the amino acid sequence during collagen formation can lead to faulty collagen and structurally weak connective tissues, which manifests in various clinical symptoms.