Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in th...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Hueng-Chuen Fan, Hsiu-Fen Lee, Chen-Tang Yue, Ching-Shiang Chi
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	MELAS mitochondrial DNA genetics Science Q
Acceso en línea:	https://doaj.org/article/4bbf52664af84b848ff0ed78eccf13a0
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:4bbf52664af84b848ff0ed78eccf13a0
record_format	dspace
spelling	oai:doaj.org-article:4bbf52664af84b848ff0ed78eccf13a02021-11-25T18:10:22ZClinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes10.3390/life111111112075-1729https://doaj.org/article/4bbf52664af84b848ff0ed78eccf13a02021-10-01T00:00:00Zhttps://www.mdpi.com/2075-1729/11/11/1111https://doaj.org/toc/2075-1729Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.Hueng-Chuen FanHsiu-Fen LeeChen-Tang YueChing-Shiang ChiMDPI AGarticleMELASmitochondrial DNAgeneticsScienceQENLife, Vol 11, Iss 1111, p 1111 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	MELAS mitochondrial DNA genetics Science Q
spellingShingle	MELAS mitochondrial DNA genetics Science Q Hueng-Chuen Fan Hsiu-Fen Lee Chen-Tang Yue Ching-Shiang Chi Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
description	Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.
format	article
author	Hueng-Chuen Fan Hsiu-Fen Lee Chen-Tang Yue Ching-Shiang Chi
author_facet	Hueng-Chuen Fan Hsiu-Fen Lee Chen-Tang Yue Ching-Shiang Chi
author_sort	Hueng-Chuen Fan
title	Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
title_short	Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
title_full	Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
title_fullStr	Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
title_full_unstemmed	Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
title_sort	clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/4bbf52664af84b848ff0ed78eccf13a0
work_keys_str_mv	AT huengchuenfan clinicalcharacteristicsofmitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes AT hsiufenlee clinicalcharacteristicsofmitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes AT chentangyue clinicalcharacteristicsofmitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes AT chingshiangchi clinicalcharacteristicsofmitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes
_version_	1718411556845256704

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Ejemplares similares