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A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype

Murata, Daisuke and Grunseich, Christopher and Iijima, Miho and Chan, David and Corse, Andrea and Hoke, Ahmet and Schindler, Alice and Sesaki, Hiromi and Roda, Ricardo H. (2023) A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype. Journal of Neuromuscular Diseases, 10 (1). pp. 107-118. ISSN 2214-3599. doi:10.3233/jnd-221532.

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Background: The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired disorders. We present a novel heterozygous variant in mitochondrial fission factor (MFF) which mimics myasthenia gravis. Objective: To determine if the MFF c.937G>A, p.E313K variant causes a mild mitochondrial phenotype. Methods: We used whole exome sequencing (WES) to identify a novel heterozygous variant in MFF in a patient with ptosis, fatigue and muscle weakness. Using patient derived fibroblasts, we performed assays to evaluate mitochondrial and peroxisome dynamics. Results: We show that fibroblasts derived from this patient are defective in mitochondrial fission, despite normal recruitment of Drp1 to the mitochondria. Conclusions: The MFF c.937G>A, p.E313K variant leads to a mild mitochondrial phenotype and is associated with defective mitochondrial fission in patient-derived fibroblasts.

Item Type:Article
Related URLs:
URLURL TypeDescription
Murata, Daisuke0000-0003-3829-6620
Grunseich, Christopher0000-0003-4994-2472
Chan, David0000-0002-0191-2154
Corse, Andrea0000-0001-6861-0823
Hoke, Ahmet0000-0003-1215-3373
Sesaki, Hiromi0000-0002-6877-3929
Roda, Ricardo H.0000-0002-3255-7749
Additional Information:This work was made possible, in part, through philanthropic support from Dr. Peter Buck and additional anonymous contributors. CG and AS were supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke. We would like to thank the NIH Intramural Sequencing Center (NISC) for whole-exome sequencing and Elizabeth Hartnett, MSW, who contributed as the patient care coordinator for the NIH neurogenetics clinic. MI is supported through NIH grant GM131768. HS is supported through NIH grant GM144103 and also support from the Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation. DC is supported through NIH R35 GM127147.
Funding AgencyGrant Number
Robert J. Kleberg, Jr. and Helen C. Kleberg FoundationUNSPECIFIED
NIHR35 GM127147
Issue or Number:1
Record Number:CaltechAUTHORS:20230207-728273600.6
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ID Code:119085
Deposited By: Research Services Depository
Deposited On:14 Mar 2023 22:35
Last Modified:14 Mar 2023 22:35

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