X

Download Achondroplasia University PowerPoint Presentation


Login   OR  Register
X

Share page



  Preview

               
Home / Health & Wellness / Health & Wellness Presentations / Achondroplasia University PowerPoint Presentation

Achondroplasia University PowerPoint Presentation

worldwideweb By : worldwideweb

On : Jan 08, 2015

In : Health & Wellness

Embed :
226
views

0
downloads
Login / Signup - with account for


  • → Make favorite
  • → Flag as inappropriate
  • → Download Presentation
  • → Share Presentation
  • Slide 1 - Achondroplasia: Dwarfism Kelly LaBarre
  • Slide 2 - Clinical Features Achondroplasia literally means “without cartilage formation.” Presents clinically as a long narrow trunk with short extremities, large head with frontal bossing, hypoplasia of the midface, and trident configuration of the hands. An autosomal dominant disorder; a majority of cases are sporadic, the result of a de novo mutation. A de novo mutation is a new mutation that occurs in a germ cell and is then passed on to an offspring.
  • Slide 3 - FGFR3 Gene The gene affected is the Fibroblast Growth Factor Receptor 3 gene, of FGFR3. FGFR3 is located on chromosome 4, 4p16.3
  • Slide 4 - Mutation There is a G to A transition at nucleotide 1138 of the coding sequence resulting in a gly380 to arg substitution. Glycine is a basic side chain with its positive charge stabilized by resonance. Arginie is a nonpolar side chain consisting of a single hydrogen atom. GGG changes to AGG in the majority of the cases of achondroplasia.
  • Slide 5 - Protein Function These proteins play a role in several important cellular processes, including regulation of cell growth and division, determination of cell type, formation of blood vessels, wound healing, and embryo development. FGFR3 is a transmembrane protein. The FGFR3 protein is involved in the development and maintenance of bone and brain tissue. Researchers believe that this receptor regulates bone growth by limiting the formation of bone from cartilage in the long bones.
  • Slide 6 - Conserved Domains Most of the sections of the conserved domains are tyrosine kinases, which are enzymes that can transfer a phosphate group from ATP to a tyrosine residue in a protein. This is important because FGFR3 is a transmembrane protein that can interact outside the cell to create a cascade of events inside. The remainder of the conserved domains are immunoglobulin chains.
  • Slide 7 - 3D Representation This is an FGFR1 molecule, the alpha chain is white and the beta chain is blue. It has similar function but different structure than FGFR3. At the 380 position it has a glutamine, which would change to asparganine with the point mutation, but this is not what causes achondroplasia.
  • Slide 8 - Aberrant Function The glycine to arginine switch in the protein structure can create, obviously, large problems. Since the glycine side chain is so much smaller and without a charge, the binding sites and structure of the final protein are altered. arginine glycine
  • Slide 9 - Why? The normal function of FGFR3 is to slow down the formation of bone by inhibiting the proliferation of chondrocytes, the cells that produce cartilage. The mutation increases the activity of FGFR3, severely limiting bone growth. The mutant receptors actually work better than the wild-type.
  • Slide 10 - References GeneReviews Editor-in-chief: Pagon, Roberta A. Associate editors: Cassidy, Suzanne B.; Bird, Thomas C.; Dinulos, Mary Beth; Feldman, Gerald L.; Smith, Richard J.H.; Dolan, Cynthia R. Technical editor: Baskin, Patricia K. Seattle (WA): University of Washington; 1993-2006 Genes and disease. Bethesda (MD): National Library of Medicine (US), NCBI. Human Molecular Genetics 2 2nd ed. Strachan, Tom and Read, Andrew P. New York and London: Garland Science; c1999 http://www.ncbi.nlm.nih.gov/BLAST/ http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM RCSB Protein Data Bank : http://www.rcsb.org/pdb/home/home.do
Pregnant Lady Free PowerPoint Template

Pregnant Lady

Views : 735

Unity Free PowerPoint Template

Unity

Views : 156

Dentist Free PowerPoint Template

Dentist

Views : 89

Massage SPA Free PowerPoint Template

Massage SPA

Views : 356

Health Tips Free PowerPoint Template

Health Tips

Views : 338

Swans Free PowerPoint Template

Swans

Views : 174

Agriculture Free PowerPoint Template

Agriculture

Views : 504

Smoking Free PowerPoint Template

Smoking

Views : 208

Stones Free PowerPoint Template

Stones

Views : 250

Global Warming Free PowerPoint Template

Global Warming

Views : 239

Air Baloon Free PowerPoint Template

Air Baloon

Views : 326

Union Free PowerPoint Template

Union

Views : 245

Cloud Computing Technology Free PowerPoint Template

Cloud Computing Technology

Views : 1624

Good Friday Free PowerPoint Template

Good Friday

Views : 443

Coffee Free PowerPoint Template

Coffee

Views : 413

Birthday Cake Free PowerPoint Template

Birthday Cake

Views : 216

Blood Cells Free PowerPoint Template

Blood Cells

Views : 432

Nature Abstract Free PowerPoint Template

Nature Abstract

Views : 192

Butterfly Free PowerPoint Template

Butterfly

Views : 279

Cigarettes Free PowerPoint Template

Cigarettes

Views : 411

Description : PowerPoint presentation on Achondroplasia University, download now ppt of Achondroplasia University

Tags : Achondroplasia University

Shortcode : Get Shareable link