A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome.
Mecr is enriched in a subset of glial cells in the larval brain and is present in mitochondria in salivary glands. a, Schematic diagram showing the mecr-GFP transgene used in this study. b, Expression of Mecr–GFP in Elav+ neuronal and Repo+ glial cells of the third instar larval brain. Scale bars, 25 µm. c, Salivary gland cells from third instar larva and colocalization of Mecr–GFP with ATP5α, an inner mitochondrial membrane protein. Scale bar, 10 µm.
The study was led by Dr. Hugo J. Bellen, distinguished service professor at Baylor College of Medicine, and Chair of Neurogenetics at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital , and Dr. Debdeep Dutta, a postdoctoral fellow in the Bellen lab. The Duncan NRI team found that in patients and animal models of this disorder, a large number of neurons die due to excessive accumulation of ceramide and defective iron metabolism, which results from disruptions in mitochondrial fatty acid synthesis. It is the first to provide a mechanistic link between disruptions in mitochondrial fatty acid synthesis, iron and ceramide metabolism, and neurodegeneration.
, including humans, the major fraction of fatty acids are synthesized in the cytoplasm, the gelatinous liquid that fills the majority of the cells. In the late 1980s, it was discovered that a small fraction of fatty acids are also synthesized in the mitochondria, which act as the cell's energy generators.
In 2016, mutations in the mitochondrial enoyl coA-reductase gene were identified as the cause of MEPAN syndrome, a rare neurological condition characterized by progressive motor issues, such as dystonia, speech problems, and a loss of vision, leading eventually to blindness.
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