Somatic mitochondrial DNA D-loop mutations in meningioma discovered: A preliminary data

Yusoff, Abdul Aziz Mohamed; Khair, Siti Zulaikha Nashwa Mohd; Abdullah, Wan Salihah Wan; Radzak, Siti Muslihah Abd; Abdullah, Jafri Malin

doi:10.4103/jcrt.jcrt_1132_16

Cited by 4 publications

(3 citation statements)

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“…MT-D-Loop 16311T>C is a SNP in HV1, which was also the most common SNP identified in a sequence analysis of hypervariable regions in 10 unrelated Iranian families . Several studies linked mutations in the mitochondrial D-Loop with cancer. ,, As the D-Loop region regulates the replication, transcription, and translation of mtDNA, mutations in this region might cause impaired mitochondrial function due to the abnormal expression of mitochondrial proteins. ,, Second, prenatal NO 2 exposure was linked with MT-CYTB 14766C>T . The MT-CYTB gene encodes one of the proteins of complex III, which plays a role in oxidative phosphorylation.…”

Section: Discussionmentioning

confidence: 99%

“…We identified that MT-D-Loop 16311T>C heteroplasmy was associated with prenatal NO 2 exposure. The mtDNA contains a hypervariable, non-coding displacement loop, also known as the D-Loop, which acts as a promoter for both the heavy and light strands of the mtDNA and harbors most of the regulatory sequences related to mtDNA replication, transcription, and translation. − This D-Loop contains three hypervariable regions: HV1 (positions 16024–16383), HV2 (positions 57–372), and HV3 (positions 438–574) . MT-D-Loop 16311T>C is a SNP in HV1, which was also the most common SNP identified in a sequence analysis of hypervariable regions in 10 unrelated Iranian families .…”

Section: Discussionmentioning

confidence: 99%

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In Utero Exposure to Air Pollutants and Mitochondrial Heteroplasmy in Neonates

Cosemans

Wang

Martens

et al. 2022

Environ. Sci. Technol.

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Mitochondria are sensitive to oxidative stress, which can be caused by traffic-related air pollution. Placental mitochondrial DNA (mtDNA) mutations have been previously linked with air pollution. However, the relationship between prenatal air pollution and cord-blood mtDNA mutations has been poorly understood. Therefore, we hypothesized that prenatal particulate matter (PM 2.5 ) and NO 2 exposures are associated with cord-blood mtDNA heteroplasmy. As part of the ENVIRONAGE cohort, 200 mother−newborn pairs were recruited. Cord-blood mitochondrial single-nucleotide polymorphisms were identified by whole mitochondrial genome sequencing, and heteroplasmy levels were evaluated based on the variant allele frequency (VAF). Outdoor PM 2.5 and NO 2 concentrations were determined by a highresolution spatial−temporal interpolation method based on the maternal residential address. Distributed lag linear models were used to determine sensitive time windows for the association between NO 2 exposure and cord-blood mtDNA heteroplasmy. A 5 μg/m 3 increment in NO 2 was linked with MT-D-Loop 16311T>C heteroplasmy from gestational weeks 17−25. MT-CYTB 14766C>T was negatively associated with NO 2 exposure in mid pregnancy, from weeks 14−17, and positively associated in late pregnancy, from weeks 31−36. No significant associations were observed with prenatal PM 2.5 exposure. This is the first study to show that prenatal NO 2 exposure is associated with cord-blood mitochondrial mutations and suggests two critical windows of exposure in mid-to-late pregnancy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

In Utero Exposure to Air Pollutants and Mitochondrial Heteroplasmy in Neonates

Cosemans

Wang

Martens

et al. 2022

Environ. Sci. Technol.

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“…It has a size of 16.5 kb, containing 37 genes responsible for encoding 13 protein subunits of the OXPHOS system, as well as two rRNAs and a set of 22 tRNAs for mitochondrial translation [ 7 , 8 ]. In addition to the coding region, mtDNA contains a non-coding control region, a short displacement loop, a hypervariable segment (HVS) known as the D-loop, which houses almost all mtDNA replication and transcription [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes

Ferreira,

Gonçalves,

Adiala

et al. 2024

Diabetol Metab Syndr

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Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly diverse genetic pool. This study aimed to analyze the mtDNA of patients with T1D and to investigate whether there is a relationship between maternal ancestry, self-reported color and the presence of T1D. The mtDNA control region of 204 patients with T1D residing in three geographic regions of Brazil was sequenced following the International Society for Forensic Genetics (ISFG) recommendations. We obtained a frequency of Native American matrilineal origin (43.6%), African origin (38.2%), and European origin (18.1%). For self-declared color, 42.6% of the patients with diabetes reported that they were White, 50.9% were Brown, and 5.4% were Black. Finally, when we compared the self-declaration data with maternal ancestral origin, we found that for the self-declared White group, there was a greater percentage of haplogroups of Native American origin (50.6%); for the self-declared Black group, there was a greater percentage of African haplogroups (90.9%); and for the Brown group, there was a similar percentage of Native American and African haplogroups (42.3% and 45.2%, respectively). The Brazilian population with diabetic has a maternal heritage of more than 80% Native American and African origin, corroborating the country’s colonization history.

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