AI Article Synopsis
- MELAS is a genetic disorder affecting various body systems, caused by mitochondrial DNA mutations that lead to energy deficiencies, impacting organs like the brain and muscles.
- The most common mutation linked to MELAS, m.3243A > G, significantly increases the risk of diabetes in affected individuals, with around 85% developing it by age 70.
- A case of a 32-year-old Korean patient with MELAS shows worsened stroke-like episodes and lactic acidosis after taking metformin, raising questions about its safety in mitochondrial dysfunction.
Article Abstract
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited multisystemic disorder caused by mutations in mitochondrial DNA that result in cellular energy deficiency. MELAS affects the most metabolically active organs, including the brain, skeletal muscles, cochlea, retina, heart, kidneys, and pancreas. As a result, about 85% of carriers of m.3243A > G, the most common mutation in MELAS, develop diabetes by the age of 70. Although metformin is the most widely prescribed drug for diabetes, its usefulness in mitochondrial dysfunction remains controversial. Here, we present the case of a 32-year-old Korean patient diagnosed with MELAS who presented with exacerbated stroke-like episodes and lactic acidosis triggered by metformin.
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| http://dx.doi.org/10.1007/s10072-024-07343-9 | DOI Listing |
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