Version 2.78

Part Descriptions

LP101173-5   MGMT gene methylation
O(6)-methylguanine-DNA methyltransferase (MGMT) is an essential enzyme involved in the repair of damage caused by a variety of DNA crosslinking compounds, including alkylating agents. Hypermethylation of the MGMT gene promoter region causes diminished or silenced expression of the gene, making cells more sensitive to DNA damage and prone to tumor development. Approximately 40% to 45% of glioblastoma multiforme (GBM) tumors exhibit MGMT gene methylation. In patients with malignant brain tumors, the loss of activity has been shown to be a promising predictor of response to alkylating agent-based chemotherapies, including BCNU (carmustine), CCNU and Temozolomide. The loss of MGMT activity in tumor cells can no longer repair the methyl adduct formation caused by the chemotherapy, leading to lethal cross-links between DNA strands. Most patients with methylated MGMT (m_MGMT) experience an increase in overall survival and time to progression of the disease. Source: Regenstrief LOINC

LP124510-1   gene methylation
DNA methylation is essential during embryonic development, and patterns of DNA methylation are generally transmitted to daughter cells with a high fidelity. In cancer, aberrant DNA methylation patterns are found in two distinct forms: hypermethylation and hypomethylation. Hypermethylation is one of the major epigenetic modifications that repress transcription via the promoter region of tumor suppressor genes. Hypermethylation typically occurs at CpG islands in the promoter region and is associated with gene inactivation. Hypomethylation, linked to chromosomal instability and loss of imprinting, arises earlier and occurs throughout the progression of cancer.

More specifically, methylated DNA can bind to methyl-CpG-binding domain proteins (MBDs), which recruit additional proteins such as histone deacetylases and other chromatin remodeling proteins that modify histones to form compact, inactive chromatin, termed silent chromatin. Loss of methyl-CpG-binding protein 2 (MeCP2) has been implicated in Rett syndrome; and methyl-CpG-binding domain protein 2 (MBD2) mediates the transcriptional silencing of hypermethylated genes in cancer. Research has suggested that long-term memory storage in humans may be regulated by DNA methylation. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Fully-Specified Name

Component
MGMT gene methylation
Property
Arb
Time
Pt
System
Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MGMT gene methylation Tiss Ql
Display Name
MGMT gene methylation Molgen Ql (Tiss)
Consumer Name Alpha Get Info
MGMT gene methylation, Tissue

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
12760

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Metilación del gen MGMT:Arbitrario:Punto temporal:Tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Metilación del gen MGMT:Arbitrario:Punto temporal:Tejido y frotis:Ordinal:Genética molecular
fr-FR French (France) MGMT gène méthylation:Arbitraire:Ponctuel:Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MGMT, metilazione gene:Arb:Pt:Tessuto:Ord:Molgen
Synonyms: Arbitrario Genetica molecolare Metilazione del gene MGMT Mutazione genica Patologia molecolare Punto nel tempo (episodio) Tessuto & Strisci
nl-NL Dutch (Netherlands) MGMT genmethylatie:aanwezigheid:moment:weefsel en uitstrijkjes:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) MGMT gene metilação::Pt:Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) MGTM ген метилирование:Произв:ТчкВрм:Тк:Пор:МолГен
Synonyms: Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MGMT geni metilasyonu:Sç:Zmlı:Doku:Srl:Molgen
zh-CN Chinese (China) MGMT 基因甲基化:任意型:时间点:组织与涂片:序数型:分子遗传学类实验室方法
Synonyms: OTTHUMP00000020741;methylguanine-DNA methyltransferase;O-6-methylguanine-DNA methyltransferase;甲基鸟嘌呤-DNA 甲基转移酶;O-6-甲基鸟嘌呤-DNA 甲基转移酶;甲基鸟嘌呤-DNA 转甲基酶;O-6-甲基鸟嘌呤-DNA 转甲基酶 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=60252-4