Dr Rachel Davies

lots of definitions available on lecture slides and ankis made alongside these wonderful notes

G380R which is located in the transmembrane part of the protein FGFR3 is the most common site for mutation in achondroplasia

Hyperplasia, metaplasia, and dysplasia are reversible because they are results of a stimulus. Neoplasia is irreversible because it is autonomous

• 1. Describe the causes of abnormal systemic growth

abnormal systemic growth can occur in a way that makes an induvidual too large or too small compared with avergae population statistics.

achondroplasia is when an induviduals long bones do NOT grow to the length they are expected to, this results in a smaller induvidual. this is caused due to a mutation in the FGFR3 (fibroblast growth factor receptor 3). FGFR3 normally acts to inhibit exponential growth of an induvidual it was shown that in mice that if their FGFR3 gene was removed they grew to a larger than normal size. This shows that it actually acts to inhibit rather than activate growth therefore the mutation seen in achondroplasia must act to stimulate the effect of the inhibition on long bones.

Pituitary Gigantism is a condition where the induvidual grows extremely large very abnormally.

it is almost ALWAYS caused by a tumour in the pituitary gland causing an excess of growth hormone to be released the growth hormone that is increased is known as IGF-1.

• 2. Define the terms used to describe normal and abnormal cell growth and differentiation

hyperpoliferation - above normal cell poliferation

hypopoliferation - below normal cell poliferation