1 / 12

Ataxia- Telangiectasia and ATM

Ataxia- Telangiectasia and ATM. Kenji Leonard 3/5/2004 Cancer Biology. What is Ataxia-Telangiectasia. A-T is a progressive neurodegenerative genetic disease. Cerebellar ataxia (In-coordination, lack of balance) Ocular telangiectasia (Widening of small blood vessels in conjunctiva)

prescott-peck
Download Presentation

Ataxia- Telangiectasia and ATM

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Ataxia- Telangiectasiaand ATM Kenji Leonard 3/5/2004 Cancer Biology

  2. What is Ataxia-Telangiectasia • A-T is a progressive neurodegenerative genetic disease. • Cerebellar ataxia (In-coordination, lack of balance) • Ocular telangiectasia (Widening of small blood vessels in conjunctiva) • No cure and fatal by early 20s.

  3. Cerebellar Ataxia

  4. Ocular Telangiectasia www.indianpediatrics.net/ dec-99/99-dec-29.htm

  5. What Causes A-T? • A mutated gene called ATM produces a mutated ATM protein (ataxia telangiectasia mutated) • Found by genetic linkage analysis Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or LocusLink and/or Ensembl if different)

  6. Normal ATM protein Function • A Serine-Protein Kinase Ex. p53, BRCA1 • Senses Double Stranded Breaks in DNA • Activates cell cycle checkpoints

  7. Abnormal ATM protein • 70% of all mutated ATM protein is found to be truncated • Missense mutations produce a dominant negative effect • If heterozygous for mutated ATM gene, the cancer risk is 4X that of the general population

  8. Abnormal ATM protein Function

  9. ATM and cancer

  10. Main Points • ATM, a serine kinase, senses DNA damage and activates cell cycle checkpoints to either arrest cell cycle or cause apoptosis. • Mutant ATM causes A-T, a genomic instability syndrome, which is lethal by age 20. • Mutant ATM heterozygotes have increased cancer risks.

More Related