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Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation

Kun Zhu1,2, Shuang Li1, Huan Chen1

  • 1Department of Neurology, First Affiliated Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, Liaoning, 110001, China.

Metabolic Brain Disease
|March 22, 2017
PubMed

Insights

Late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve large blood vessels, leading to aneurysms. Regular angiographic screening is recommended for MELAS patients to detect these vascular abnormalities.

Area of Science:

  • Neurology
  • Vascular Medicine
  • Genetics

Background:

  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder.
  • Stroke-like episodes in MELAS are typically attributed to microangiopathy.
  • Large vessel abnormalities are less commonly reported in MELAS.

Observation:

  • A 53-year-old patient presented with late-onset MELAS.
  • The patient exhibited associated aneurysm and large vessel dilations.
  • This case highlights significant large vessel involvement in MELAS.

Findings:

  • The study describes a case of MELAS with concurrent large vessel pathology.
  • It explores potential mechanisms behind aneurysm formation in MELAS patients.
  • This contrasts with the predominant focus on microangiopathy in existing literature.

Implications:

  • Findings suggest that large vessel involvement should be considered in the clinical management of MELAS.
  • Regular angiographic examinations are recommended for early detection of vascular issues in MELAS patients.
  • Further research into the pathogenesis of vascular abnormalities in MELAS is warranted.
Keywords:
AneurysmApoptosisMELASNitric oxide synthase

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