The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS
Objective To investigate the mitochondrial DNA (mtDNA) mutation load in hair follicles from different scalp regions of patients with mitochondrial, encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), compare the mutation load in different scalp regions, and analyze the differenc...
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doaj-0275b6de773245a2b492706ac247229b2020-11-24T21:39:05ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312018-08-0118857758110.3969/j.issn.1672-6731.2018.08.0041775The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELASYuan-yuan LU0Xu-tong ZHAO1Qing-qing WANG2Xiao ZHANG3Yun YUAN4Zhao-xia WANG5Department of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaObjective To investigate the mitochondrial DNA (mtDNA) mutation load in hair follicles from different scalp regions of patients with mitochondrial, encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), compare the mutation load in different scalp regions, and analyze the difference in mutation load between scalp regions with lesion site in the brain and scalp regions without lesion site in the brain. Methods Seven MELAS patients with m.3243A > G mutations were studied. Hair follicles were obtained from 8 scalp regions (bilateral frontal, temporal, parietal and occipital lobes) of all patients and DNA was extracted. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to detect the m.3243A > G mutation. Results The mean value of m.3243A > G mutation load in hair follicles from all patients was (60.57 ± 7.71)%. In different scalp regions, the mean mutation load was (61.30 ± 7.32)% in left frontal, (65.41 ± 5.85)% in right frontal, (59.80 ± 5.58)% in left temporal, (57.59 ± 14.47)% in right temporal, (62.46 ± 5.02)% in left parietal, (60.11 ± 7.11)% in right parietal, (59.70 ± 8.68)% in left occipital and (59.42 ± 6.28)% in right occipital regions, respectively. There was no significant difference in the m.3243A > G mutation load among different scalp regions (F = 0.537, P = 0.802). There was no significant difference in the mutation load between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain [(60.33 ± 8.70)% vs. (61.02 ± 6.52)%; t = 0.319, P = 0.751)]. Conclusions Hair follicles are convenient and noninvasive sampled tissue for detecting mtDNA mutations. There is no difference in the mutation load among different scalp regions. Furthermore, there is no difference between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain.http://www.cjcnn.org/index.php/cjcnn/article/view/1820MELAS syndromeHair follicleDNA, mitochondrialMutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yuan-yuan LU Xu-tong ZHAO Qing-qing WANG Xiao ZHANG Yun YUAN Zhao-xia WANG |
spellingShingle |
Yuan-yuan LU Xu-tong ZHAO Qing-qing WANG Xiao ZHANG Yun YUAN Zhao-xia WANG The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS Chinese Journal of Contemporary Neurology and Neurosurgery MELAS syndrome Hair follicle DNA, mitochondrial Mutation |
author_facet |
Yuan-yuan LU Xu-tong ZHAO Qing-qing WANG Xiao ZHANG Yun YUAN Zhao-xia WANG |
author_sort |
Yuan-yuan LU |
title |
The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS |
title_short |
The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS |
title_full |
The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS |
title_fullStr |
The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS |
title_full_unstemmed |
The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS |
title_sort |
m.3243a > g mutation load in hair follicles from different scalp regions of patients with melas |
publisher |
Tianjin Huanhu Hospital |
series |
Chinese Journal of Contemporary Neurology and Neurosurgery |
issn |
1672-6731 |
publishDate |
2018-08-01 |
description |
Objective To investigate the mitochondrial DNA (mtDNA) mutation load in hair follicles from different scalp regions of patients with mitochondrial, encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), compare the mutation load in different scalp regions, and analyze the difference in mutation load between scalp regions with lesion site in the brain and scalp regions without lesion site in the brain. Methods Seven MELAS patients with m.3243A > G mutations were studied. Hair follicles were obtained from 8 scalp regions (bilateral frontal, temporal, parietal and occipital lobes) of all patients and DNA was extracted. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to detect the m.3243A > G mutation. Results The mean value of m.3243A > G mutation load in hair follicles from all patients was (60.57 ± 7.71)%. In different scalp regions, the mean mutation load was (61.30 ± 7.32)% in left frontal, (65.41 ± 5.85)% in right frontal, (59.80 ± 5.58)% in left temporal, (57.59 ± 14.47)% in right temporal, (62.46 ± 5.02)% in left parietal, (60.11 ± 7.11)% in right parietal, (59.70 ± 8.68)% in left occipital and (59.42 ± 6.28)% in right occipital regions, respectively. There was no significant difference in the m.3243A > G mutation load among different scalp regions (F = 0.537, P = 0.802). There was no significant difference in the mutation load between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain [(60.33 ± 8.70)% vs. (61.02 ± 6.52)%; t = 0.319, P = 0.751)]. Conclusions Hair follicles are convenient and noninvasive sampled tissue for detecting mtDNA mutations. There is no difference in the mutation load among different scalp regions. Furthermore, there is no difference between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain. |
topic |
MELAS syndrome Hair follicle DNA, mitochondrial Mutation |
url |
http://www.cjcnn.org/index.php/cjcnn/article/view/1820 |
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