DOI QR코드

DOI QR Code

Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing

  • Josef Finsterer (Neurology & Neurophysiology Center)
  • Received : 2022.01.11
  • Accepted : 2022.02.08
  • Published : 2022.05.01

Abstract

Keywords

References

  1. Song Y, Lee JK, Lee JO, Kwon B, Seo EJ, Suh DC. Whole exome sequencing in patients with phenotypically associated familial intracranial aneurysm. Korean J Radiol 2022;23:101-111
  2. Zhu K, Li S, Chen H, Wang Y, Yu M, Wang H, et al. Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation. Metab Brain Dis 2017;32:1069-1072
  3. Tay SH, Nordli DR Jr, Bonilla E, Null E, Monaco S, Hirano M, et al. Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol 2006;63:281-283
  4. Yang C, Qi ZY, Shao C, Xing WK, Wang Z. Association between three eNOS polymorphisms and intracranial aneurysms risk: a meta-analysis. Medicine (Baltimore) 2015;94:e452
  5. Wang F, Quan QQ, Zhang CL, Li YB, Jiang TB. Association between polymorphisms in the interleukin-10 gene and risk of abdominal aortic aneurysm. Genet Mol Res 2015;14:17599-17604
  6. Schull S, Gunther SD, Brodesser S, Seeger JM, Tosetti B, Wiegmann K, et al. Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6. Cell Death Dis 2015;6:e1691
  7. Sinha I, Sinha-Hikim AP, Hannawa KK, Henke PK, Eagleton MJ, Stanley JC, et al. Mitochondrial-dependent apoptosis in experimental rodent abdominal aortic aneurysms. Surgery 2005;138:806-811
  8. Song Y, Miao R, Wang H, Qin X, Zhang Y, Miao C, et al. Metaanalysis of the association between angiotensin-converting enzyme I/D polymorphism and aortic aneurysm risk. J Renin Angiotensin Aldosterone Syst 2015;16:1125-1129
  9. Joo SP, Lee JK, Kim TS, Kim MK, Lee IK, Seo BR, et al. A polymorphic variant of the endoglin gene is associated with increased risk for intracranial aneurysms in a Korean population. Surg Neurol 2008;70:39-44
  10. Kim HW, Blomkalns AL, Ogbi M, Thomas M, Gavrila D, Neltner BS, et al. Role of myeloperoxidase in abdominal aortic aneurysm formation: mitigation by taurine. Am J Physiol Heart Circ Physiol 2017;313:H1168-H1179