Research Notes by Sergey
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April 13, 2024
  • #Tourette Syndrome
  • #Autophagy
  • #Lysosome
  • #DRAM1

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References

DRAM1 is a novel susceptibility locus identified in TS

One more clue that supports my hypothesis that TS is related to impaired lysosomal function and impaired autophagy:

Genome-wide significant locus, rs12313062 (p=1.43 × 10-8) and other 9 single nucleotide polymorphisms, were identified in chromosomes 12q23.2, associated with DRAM1 and was a novel susceptibility locus identified in TS/CTDs group.

DRAM1, a lysosomal transmembrane protein regulated by p53, modulates autophagy and apoptosis, with potential implications for neuropsychiatric conditions associated with autophagy disruption. (R1)

DNA damage regulated autophagy modulator 1 (DRAM1) is a stress-inducible regulator of autophagy and cell death. Among the five DRAM family members, human DRAM1 was first identified as a p53-induced protein that localizes predominantly to lysosomes and promotes autophagic flux as well as UV-damage-induced apoptosis. (R3)

References

1
Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan
2024
2
DRAM1 in Uniprot
3
Deficiency in the autophagy modulator Dram1 exacerbates pyroptotic cell death of Mycobacteria-infected macrophages
2020
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