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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)

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Ataxia- Telangiectasia and ATM

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  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.

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