University:
Texas A&M University
Course:
BIOL 214 | Genes, Ecology and Evolution
Academic year:

2019
Views:

369

Pages:

6
Author:

FrextWhestembki

Membrane Receptor Disorders Laron Syndrome  Autosomal recessive  Mutations in gene for Growth Hormone receptor  Defective hormone binding  Sx: dwarfism, prominent forehead, depressed nasal ridge, underdeveloped mandible, truncal obesity  Rx: Administration of GH has no effect (receptor is issue), treat with IGF-1 Laron Syndrome Microvillus Inclusion Disease  Rare autosomal recessive disorder  Shortening or absence of apical microvilli  Inclusion containing microvilli  Sx: Water diarrhea and malabsorption, severe dehydration and metabolic acidosis  Rx: Small bowel transplantation  Without treatment, this disease is fatal Microvillus Inclusion Disease   Conclusion: Microvillus inclusion bodies in MID originate from autophagocytosis of the apical membrane of enterocytes with engulfing of microvilli. These microvillus inclusion bodies correspond to early endosomes because they lack lysosome associated membrane proteins. Late endosomes and lysosomes containing sucrase-isomaltase did not reveal microvilluslike structures.

Membrane Receptor Disorders

Related Documents

Recommended Documents

Description

Related Documents

Free up your schedule!

Take 5 seconds to unlock