Last update 19 Sep 2024

MTHFD1L

Last update 19 Sep 2024

Basic Info

Synonyms

DKFZP586G1517, FLJ21145, Formyltetrahydrofolate synthetase

+ [4]

Introduction

May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism complementing thus the enzymatic activities of MTHFD2.

Drugs associated with MTHFD1L

MTHFD1 inhibitor(One-carbon therapeutics)

Target

MTHFD1L

Mechanism

MTHFD1L inhibitors

Active Org.

One-Carbon Therapeutics AB

Originator Org.

One-Carbon Therapeutics AB

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

TH-9619

Target

MTHFD1L x MTHFD2

Mechanism

MTHFD1L inhibitors [+1]

Active Org.

The University of Sheffield [+1]

Originator Org.

The University of Sheffield [+1]

Active Indication

B-Cell Malignant Neoplasm [+2]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with MTHFD1L

100 Translational Medicine associated with MTHFD1L

0 Patents (Medical) associated with MTHFD1L

170

Literatures (Medical) associated with MTHFD1L

15 May 2024·Development

Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant

Article

Author: Singh, Manmohan ; Larin, Kirill V ; Scarcelli, Giuliano ; Aglyamov, Salavat R ; Ambekar, Yogeshwari S ; Finnell, Richard H ; Steele, John W ; Caiaffa, Carlo Donato ; Schill, Alexander W ; Wlodarczyk, Bogdan J ; Zhang, Jitao

ABSTRACTNeurulation is a highly synchronized biomechanical process leading to the formation of the brain and spinal cord, and its failure leads to neural tube defects (NTDs). Although we are rapidly learning the genetic mechanisms underlying NTDs, the biomechanical aspects are largely unknown. To understand the correlation between NTDs and tissue stiffness during neural tube closure (NTC), we imaged an NTD murine model using optical coherence tomography (OCT), Brillouin microscopy and confocal fluorescence microscopy. Here, we associate structural information from OCT with local stiffness from the Brillouin signal of embryos undergoing neurulation. The stiffness of neuroepithelial tissues in Mthfd1l null embryos was significantly lower than that of wild-type embryos. Additionally, exogenous formate supplementation improved tissue stiffness and gross embryonic morphology in nullizygous and heterozygous embryos. Our results demonstrate the significance of proper tissue stiffness in normal NTC and pave the way for future studies on the mechanobiology of normal and abnormal embryonic development.

01 Feb 2024·Current Cancer Drug Targets

Expression, Prognostic Value, and Immune Infiltration of MTHFD Family in Bladder Cancer

Article

Author: Ge, Cheng Guo ; Zhang, Jun Yong ; Wang, Shun De ; Zheng, Bai Shu

Background:The Methylenetetrahydrofolate Dehydrogenase (MTHFD) family plays an important role in the development and prognosis of a variety of tumors; however, the role of the MTHFD family in bladder cancer is unclear.Methods:R software, cBioPortal, GeneMANIA, and online sites such as String-LinkedOmics were used for bioinformatics analysis.Results:MTHFD1/1L/2 was significantly upregulated in bladder cancer tissues compared with normal tissues, high expression of the MTHFD family was strongly associated with poorer clinical grading and staging, and bladder cancer patients with upregulated expression of MTHFD1L/2 had a significantly worse prognosis. Gene function and PPI network analysis revealed that the MTHFD family and related genes play synergistic roles in the development of bladder cancer. 800 co-expressed genes related to the MTHFD family were used for functional enrichment analysis, and the results showed that many genes were associated with various oncogenic pathways such as cell cycle and DNA replication. More importantly, the MTHFD family was closely associated with multiple infiltrating immune lymphocytes, including Treg cells, and immune molecules such as TNFSF9, CD274, and PDCD1.Conclusion:Our study shows that MTHFD family genes may be potential prognostic markers and therapeutic targets for patients with bladder cancer.

31 Jan 2024·Cureus

Association of MTHFD1 G1958A Polymorphism with Gestational Diabetes Mellitus

Article

Author: Sivaraj, Nagarjuna ; Bunga, Papa Kusuma ; Arigapudi, Nithya ; Ramadugu, Rithika ; Suvvari, Tarun Kumar ; Raju, Riya ; Panchanani, Arun ; Balaga, Vijaya Sirisha ; Kande, Mahesh Babu ; Narayan, Gaurang

Background The MTHFD1 G1958A polymorphism is a common variation in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme crucial for folate metabolism. This study investigated the association between the MTHFD1 G1958A polymorphism, which is involved in folate metabolism, and gestational diabetes mellitus (GDM) risk. Methods A case-control study was conducted and 304 pregnant women (152 with gestational diabetes as cases and 152 healthy pregnant as controls) participated in the study. The polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) techniques were used to determine the MTHFD1 1958G>A polymorphism genotypes. Results Analysis of genotype frequencies revealed a statistically significant difference (p-value < 0.05) between the GDM group and the control group, suggesting a potential association between this gene variant and the development of GDM. Interestingly, while allele frequencies alone did not show a significant association with GDM risk, analysis in a recessive model (both severe and mild forms) demonstrated a strong link between the homozygous AA genotype and increased susceptibility to GDM. Conclusion This study provides the first evidence linking the MTHFD1 G1958A polymorphism and GDM risk in an Indian setting. These findings warrant further investigation into the functional impact of the MTHFD1 G1958A polymorphism and its potential role in the pathogenesis of GDM.

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MTHFD1L

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