Mitochondrial m.3243A > G mutation and carotid artery dissection

Area of Science:

• Genetics
• Neurology
• Vascular Biology

Background:

• The m.3243A>G mutation in mitochondrial DNA's tRNALeu (UUR) gene is a known cause of maternally inherited neurological and multisystemic disorders.
• Mitochondrial diseases like MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke) typically involve small vessel pathology, with large vessel involvement considered rare.

Observation:

• Two female patients with the m.3243A>G mutation presented with acute dissection of the internal carotid arteries.
• Diagnosis of mitochondrial disease was established after the vascular event.

Findings:

• These cases suggest that the m.3243A>G mutation can lead to large vessel vasculopathy.
• Impaired mitochondrial function in the vessel wall may contribute to arterial wall weakness and dissection.

Implications:

• The clinical spectrum of the m.3243A>G mutation is broader than previously thought.
• Large vessel dissection should be considered in patients with mitochondrial diseases.
• Mitochondrial aetiology should be investigated in patients with large vessel dissection, particularly those with other mitochondrial disease indicators.