Encephalopathy due to defective mitochondrial and peroxisomal fission

Definition:

Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. It has been described that patients have mutations in DNM1L gene, which has a critical role in regulating the fission of both mitochondria and peroxisomes. Recently, it has been reported that mutations in mitochondrial fission factor (MFF) also cause Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

References:

[1]. Grace Yoon, et al. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. J Pediatr. 2016 Apr;171:313-6.e1-2. [Content Brief]

[2]. Johannes Koch, et al. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J Med Genet. 2016 Apr;53(4):270-8. [Content Brief]

[3]. Ruth Sheffer, et al. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Am J Med Genet A. 2016 Jun;170(6):1603-7. [Content Brief]

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