Diseases Related to Collagen Deficiency
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10.02.2022

Diseases Related to Collagen Deficiency



Collagen is a protein that keeps the body whole and intact. Collagen deficiency manifests itself with certain symptoms. It is essential to monitor these and intervene without delay. Collagen-related diseases can be categorized into two groups: those that are congenital or genetically inherited and those that occur when collagen-rich foods are not consumed adequately, or when collagen synthesis is insufficient. Consuming collagen-rich foods can help you get rid of the following health conditions:

1. Bone Formation Defects:
   - A genetic disorder caused by a mutation in Type 1 collagen, leading to weak bones and irregular bone formation. Connective tissue issues can be mild in some cases, while in others, they can be life-threatening.

2. Chondrodysplasias (Cartilage Disorders):
   - A skeletal disorder believed to be caused by a mutation in Type 2 collagen.

3. Ehlers-Danlos Syndrome:
   - Ehlers-Danlos Syndromes (EDS) are a rare and heterogeneous group of diseases that affect connective tissues. Collagen synthesis disruption causes the disease, which, in turn, results in connective tissue damage. Connective tissue defects can lead to life-threatening complications and symptoms in various organs and tissues, from skin to bones, joints, and blood vessels.

4. Alport Syndrome:
   - Alport syndrome arises from mutations in the Type IV collagen protein family (α3/α4/α5) found in the glomerular basement membrane (GBM). It has genetic heterogeneity, with X-linked recessive, autosomal recessive, or autosomal dominant inheritance patterns.

5. Knobloch Syndrome:
   - This disease is caused by a mutation in the collagen XVIII gene and leads to protrusions in brain tissue and retinal degeneration.

6. Osteoporosis:
   - Not genetically inherited, it develops with age and is associated with reduced collagen levels in the skin and bones. Growth hormone injections are being investigated as a potential treatment to prevent any collagen loss.

References:
[1]https://draxe.com/nutrition/what-is-collagen/
[2]https://www.bu.edu/aldolase/biochemistry/html_docs/CollagenTypes&Disorders.pdf 
[3]https://www.medikalakademi.com.tr/genetik-hastaliklar-ehlers-danlos-syndrom-eds-nedir-belirtileri-ve-tedavisi/
[4] Döven, S. S., Selçuk, T. E. K. E., Gürses, Ä°., YILMAZ, B. C., BALLI, E., & DelibaÅŸ, A. Alport Sendromu tanısında böbrek biyopsisi ve elektron mikroskobinin önemi. Mersin Üniversitesi SaÄŸlık Bilimleri Dergisi, 11(1), 32-37.

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