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AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually ear...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334471/ https://www.ncbi.nlm.nih.gov/pubmed/28299359 http://dx.doi.org/10.1101/mcs.a001560 |
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author | Morton, Sarah U. Prabhu, Sanjay P. Lidov, Hart G.W. Shi, Jiahai Anselm, Irina Brownstein, Catherine A. Bainbridge, Matthew N. Beggs, Alan H. Vargas, Sara O. Agrawal, Pankaj B. |
author_facet | Morton, Sarah U. Prabhu, Sanjay P. Lidov, Hart G.W. Shi, Jiahai Anselm, Irina Brownstein, Catherine A. Bainbridge, Matthew N. Beggs, Alan H. Vargas, Sara O. Agrawal, Pankaj B. |
author_sort | Morton, Sarah U. |
collection | PubMed |
description | Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function. |
format | Online Article Text |
id | pubmed-5334471 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Cold Spring Harbor Laboratory Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-53344712017-03-15 AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant Morton, Sarah U. Prabhu, Sanjay P. Lidov, Hart G.W. Shi, Jiahai Anselm, Irina Brownstein, Catherine A. Bainbridge, Matthew N. Beggs, Alan H. Vargas, Sara O. Agrawal, Pankaj B. Cold Spring Harb Mol Case Stud Research Report Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function. Cold Spring Harbor Laboratory Press 2017-03 /pmc/articles/PMC5334471/ /pubmed/28299359 http://dx.doi.org/10.1101/mcs.a001560 Text en © 2017 Morton et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited. |
spellingShingle | Research Report Morton, Sarah U. Prabhu, Sanjay P. Lidov, Hart G.W. Shi, Jiahai Anselm, Irina Brownstein, Catherine A. Bainbridge, Matthew N. Beggs, Alan H. Vargas, Sara O. Agrawal, Pankaj B. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title_full | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title_fullStr | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title_full_unstemmed | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title_short | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
title_sort | aifm1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
topic | Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334471/ https://www.ncbi.nlm.nih.gov/pubmed/28299359 http://dx.doi.org/10.1101/mcs.a001560 |
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