MLH1


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MLH1

A human homologue of the Escherichia coli DNA mismatch repair gene on 3p21.3, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.

Molecular pathology
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer; defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome and susceptibility to endometrial cancer.
References in periodicals archive ?
For example, alterations on EXO1, MLH1, MSH2, MSH3, MSH6, PMS2, PMS2L3, RECQL, TP73, and TREX1 were statistically significantly associated with overall survival of pancreatic cancer patients [48].
The most common mutations in the MMR system itself are MLH1, MSH2 and MSH6 mutations.
(27) A clinical trial on 40 patients with type 2 diabetes mellitus (35-68 years) showed that consumption of probiotic soy milk (PSM) can decrease promoter methylation in proximal and distal MLH1 promoter region, indicating a possible role for PSM in diabetes management.
And it is confirmed by genetic analysis: the determination of the primary DNA sequence of MMR genes (MLH1, MLH2, and MSH6).
The genes containing very highly selective SNPs with p-value <0.01 (nearly top 1% SNPs) in all traits and p-value <0.001 (nearly top 0.1%) in any traits were phosphodiesterase 4B (PDE4B), serine/threonine kinase 40 (STK40), collagen, type XI, alpha 1 (COL11A1), ephrin-A1 (EFNA1), netrin 4 (NTN4), neuron specific gene family member 1 (NSG1), estrogen receptor 1 (ESR1), neurexin 3 (NRXN3), spectrin, beta, non-erythrocytic 1 (SPTBN1), ADP-ribosylation factor interacting protein 1 (ARFIP1), mutL homolog 1 (MLH1), transmembrane channel-like 7 (TMC7), carboxypeptidase X, member 2 (CPXM2), and ADAM metallopeptidase domain 12 (ADAM12).
In a study on the model of rat xenograft, shown that treatment with low dose decitabine causes the gene MLH1 reactivate (Plumb, 2000).
Moreover, the MLH1 gene has a p53-response element, indicating that it is regulated by p53 (Kaplan and Gunduz 2012).
2012) using a lookup approach in our data set for DAPK1, CDKN2A (P16), GMDS, C10orf32/AS3MT, RASSF1, PPARG, TP53, and MLH1 (see Supplemental Material, Table S3).
Vitamin and antioxidant rich diet increases MLH1 promoter DNA methylation in DMT2 subjects.
Lab-based analyses beyond the usual diagnosis based on light microscopic examination of H&E stained slides--immunohistochemistry and PCR-based assays such as sequencing, mutation testing, microsatellite instability analysis, and determination of MLH1 methylation--are most helpful for guiding diagnosis and treatment of endometrial cancer [29].