Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the gene MT-TL1. The cases of two families wit...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Universidad Nacional de Colombia
2016-01-01
|
Series: | Case Reports |
Subjects: | |
Online Access: | https://revistas.unal.edu.co/index.php/care/article/view/50754 |
id |
doaj-88deb5841b9240d3b5a180425c52a39b |
---|---|
record_format |
Article |
spelling |
doaj-88deb5841b9240d3b5a180425c52a39b2020-11-24T22:09:12ZengUniversidad Nacional de ColombiaCase Reports2462-85222016-01-0121273643659Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in ColombiaJorge Luis Granadillo De Luque0Manuel Luna1Leonardo Hernández-Reina2Clara Arteaga-Diaz3Juan Manuel Arteaga-Díaz4Universidad Nacional de ColombiaHospital El TunalFundación Universitaria de Ciencias de la Salud, Hospital San JoséUniversidad Nacional de ColombiaUniversidad Nacional de ColombiaMELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the gene MT-TL1. The cases of two families with MELAS are presented here. In the first case, the m.3243A>G mutation was detected and the heteroplasmy level in blood, urine and oral mucosa were determined, finding a great phenotypic variability: the patient had higher heteroplasmy in the three tissues compared against oligosymptomatic relatives, and the mother had high blood sugar levels and hearing loss, suggesting a phenotype near to MIDD. In the second family, the m.3271T>C mutation was detected, which constitutes the first case reported in Colombia. These findings suggest that MIDD and MELAS, often described as distinct entities, are part of the same entity with variable expressivity partially depending on heteroplasmy.https://revistas.unal.edu.co/index.php/care/article/view/50754MELASHeteroplasmiaEnfermedad mitocondrial |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jorge Luis Granadillo De Luque Manuel Luna Leonardo Hernández-Reina Clara Arteaga-Diaz Juan Manuel Arteaga-Díaz |
spellingShingle |
Jorge Luis Granadillo De Luque Manuel Luna Leonardo Hernández-Reina Clara Arteaga-Diaz Juan Manuel Arteaga-Díaz Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia Case Reports MELAS Heteroplasmia Enfermedad mitocondrial |
author_facet |
Jorge Luis Granadillo De Luque Manuel Luna Leonardo Hernández-Reina Clara Arteaga-Diaz Juan Manuel Arteaga-Díaz |
author_sort |
Jorge Luis Granadillo De Luque |
title |
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia |
title_short |
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia |
title_full |
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia |
title_fullStr |
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia |
title_full_unstemmed |
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia |
title_sort |
case studies of two families with midd and melas: heteroplasmy level in m.3243a>g mutation and the first report on m.3271t>c mutation in colombia |
publisher |
Universidad Nacional de Colombia |
series |
Case Reports |
issn |
2462-8522 |
publishDate |
2016-01-01 |
description |
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the gene MT-TL1.
The cases of two families with MELAS are presented here. In the first case, the m.3243A>G mutation was detected and the heteroplasmy level in blood, urine and oral mucosa were determined, finding a great phenotypic variability: the patient had higher heteroplasmy in the three tissues compared against oligosymptomatic relatives, and the mother had high blood sugar levels and hearing loss, suggesting a phenotype near to MIDD. In the second family, the m.3271T>C mutation was detected, which constitutes the first case reported in Colombia.
These findings suggest that MIDD and MELAS, often described as distinct entities, are part of the same entity with variable expressivity partially depending on heteroplasmy. |
topic |
MELAS Heteroplasmia Enfermedad mitocondrial |
url |
https://revistas.unal.edu.co/index.php/care/article/view/50754 |
work_keys_str_mv |
AT jorgeluisgranadillodeluque casestudiesoftwofamilieswithmiddandmelasheteroplasmylevelinm3243agmutationandthefirstreportonm3271tcmutationincolombia AT manuelluna casestudiesoftwofamilieswithmiddandmelasheteroplasmylevelinm3243agmutationandthefirstreportonm3271tcmutationincolombia AT leonardohernandezreina casestudiesoftwofamilieswithmiddandmelasheteroplasmylevelinm3243agmutationandthefirstreportonm3271tcmutationincolombia AT claraarteagadiaz casestudiesoftwofamilieswithmiddandmelasheteroplasmylevelinm3243agmutationandthefirstreportonm3271tcmutationincolombia AT juanmanuelarteagadiaz casestudiesoftwofamilieswithmiddandmelasheteroplasmylevelinm3243agmutationandthefirstreportonm3271tcmutationincolombia |
_version_ |
1725813049082773504 |