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A mutation in the SYN3 intron is associated with macular degeneration. Based on population genetics principles,...

A mutation in the SYN3 intron is associated with macular degeneration. Based on population genetics principles, speculate about how a mutation in an intron in the human genome can be associated with a phenotype.

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  • Mutation in SYN3 intron is associated with AMD ( age related macular degeneration).
  • Functionally SYN3 m RNA is expressed in retinal pigment cells.
  • Single nucleotide polymorphism has been widely reported to be associated with AMD.
  • Genetic studies have been identified AMD associate loci is located near the tissue inhibitor of metalloproteinase 3 ( TIMp3) & synapsin 3( SYN 3) region of chromosome 22q12.3
  • TIMP 3 gene is located with in the intron of SYN 3.
  • TIMP3 is a senescence protein that regulates extra cellular matrix remodellig.
  • TIMP3 was shown to suppress angiogenesis of VEGF.
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