Question

Describe two different GPCRs that have been linked to a disease or disease states due to specific mutations.

Answer 1

Mutations in GPCR include acquired and inherites diseases such as retinitis pigmentosa,hypo and hyperthyroidism,nephrogenic diabetes insipidus,several fertility disorders and even carcinomas.Up to date over 600 inactivating and almost 100 activating mutations in GPCR have been identified whic are responsible for about over 30 human diseases.These are integral membrane proteins that are used by cells to covert extracellular signals into intracellular response.

GPCR IN ALZIMERS DISEASE(AD)

AD is the most common neurogentic disorder.It has extracellular deposition of beta amyloid peptide,the oligomeric soluble forms which is belived to be key point fot neuronal dysfunction The levels of transcripts from affected patient has number of GPCR genes changed,inflammation associated GPCR.Change in expression of GPCR level would effect on related biological processes.

MONOGENIC DISEASES OF GPCR

It is usually expressed in sensory and hormonal systems where they serve as mediaters of information transfer from the extracellular environment to the cell interior.It includes hormones such as calicium sensing receptors,neurotransmittors such as non epinephrine,dopamine,setonin.A large number of mutations have been observed in rhodopsin along with various other endocrine diseases.