MTMR1

Last update 08 May 2025

Basic Info

Synonyms

MTMR1, myotubularin related protein 1, Myotubularin-related protein 1

+ [2]

Introduction

Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate, generating phosphatidylinositol (PubMed:11733541, PubMed:27018598). Could also dephosphorylate phosphatidylinositol 3,5-bisphosphate to produce phosphatidylinositol 5-phosphate (PubMed:27018598).

100 Clinical Results associated with MTMR1

100 Translational Medicine associated with MTMR1

0 Patents (Medical) associated with MTMR1

Literatures (Medical) associated with MTMR1

01 Sep 2024·Hepatology Research

Genomic analysis of an aggressive hepatic leiomyosarcoma case following treatment for hepatocellular carcinoma

Article

Author: Numata, Yuto ; Ishigami, Keisuike ; Hirano, Takehiro ; Nakase, Hiroshi ; Akutsu, Noriyuki ; Nakamura, Tomoya ; Murota, Ayako ; Idogawa, Masashi ; Sasaki, Shigeru ; Wagatsuma, Kohei ; Masaki, Yoshiharu ; Kawakami, Yujiro ; Numata, Yasunao

AbstractA 70‐year‐old man undergoing treatment for immunoglobulin G4‐related disease developed a liver mass on computed tomography during routine imaging examination. The tumor was located in the hepatic S1/4 region, was 38 mm in size, and showed arterial enhancement on dynamic contrast‐enhanced computed tomography. We performed a liver biopsy and diagnosed moderately differentiated hepatocellular carcinoma. The patient underwent proton beam therapy. The tumor remained unchanged but enlarged after 4 years. The patient was diagnosed with hepatocellular carcinoma recurrence and received hepatic arterial chemoembolization. However, 1 year later, the patient developed jaundice, and the liver tumor grew in size. Unfortunately, the patient passed away. Autopsy revealed that the tumor consisted of spindle‐shaped cells exhibiting nuclear atypia and a fission pattern and tested positive for α‐smooth muscle actin and vimentin. No hepatocellular carcinoma components were observed, and the patient was pathologically diagnosed with hepatic leiomyosarcoma. Next‐generation sequencing revealed somatic mutations in CACNA2D4, CTNNB1, DOCK5, IPO8, MTMR1, PABPC5, SEMA6D, and ZFP36L1. Based on the genetic mutation, sarcomatoid hepatocarcinoma was the most likely pathogenesis in this case. This mutation is indicative of the transition from sarcomatoid hepatocarcinoma to hepatic leiomyosarcoma.

01 Jan 2022·Molecular Therapy

Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes

Article

Author: Marinee K. Chuah ; Sumitava Dastidar ; Thierry VandenDriessche ; Debanjana Majumdar ; Jaitip Tipanee ; Arnaud F. Klein ; Denis Furling ; Kshitiz Singh

CTG repeat expansion (CTG_exp) is associated with aberrant alternate splicing that contributes to cardiac dysfunction in myotonic dystrophy type 1 (DM1). Excision of this CTG_exp repeat using CRISPR-Cas resulted in the disappearance of punctate ribonuclear foci in cardiomyocyte-like cells derived from DM1-induced pluripotent stem cells (iPSCs). This was associated with correction of the underlying spliceopathy as determined by RNA sequencing and alternate splicing analysis. Certain genes were of particular interest due to their role in cardiac development, maturation, and function (TPM4, CYP2J2, DMD, MBNL3, CACNA1H, ROCK2, ACTB) or their association with splicing (SMN2, GCFC2, MBNL3). Moreover, while comparing isogenic CRISPR-Cas9-corrected versus non-corrected DM1 cardiomyocytes, a prominent difference in the splicing pattern for a number of candidate genes was apparent pertaining to genes that are associated with cardiac function (TNNT, TNNT2, TTN, TPM1, SYNE1, CACNA1A, MTMR1, NEBL, TPM1), cellular signaling (NCOR2, CLIP1, LRRFIP2, CLASP1, CAMK2G), and other DM1-related genes (i.e., NUMA1, MBNL2, LDB3) in addition to the disease-causing DMPK gene itself. Subsequent validation using a selected gene subset, including MBNL1, MBNL2, INSR, ADD3, and CRTC2, further confirmed correction of the spliceopathy following CTG_exp repeat excision. To our knowledge, the present study provides the first comprehensive unbiased transcriptome-wide analysis of the differential splicing landscape in DM1 patient-derived cardiac cells after excision of the CTG_exp repeat using CRISPR-Cas9, showing reversal of the abnormal cardiac spliceopathy in DM1.

01 Apr 2021·European Journal of Medical GeneticsQ4 · MEDICINE

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

Q4 · MEDICINE

Article

Author: Pozo, Angela Del ; Rosas-Alonso, Rocío ; García-Guede, Alvaro ; Sanguino, Javier ; Gómez-González, Clara ; Ibáñez de Caceres, Inmaculada ; Prior, Carmen ; Torres, Rosa J ; Esteban, Isabel ; Pascual, Samuel I ; Mori, María Ángeles ; Rodríguez-Antolín, Carlos

X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we describe the case of a sporadic female patient with suspicion of centronuclear myopathy and a heterozygous large deletion at Xq28 encompassing the MAMLD1, MTM1, MTMR1, CD99L2, and HMGB3 genes. The deletion was first detected using a custom next generation sequencing (NGS)-based multigene panel and finally characterized by comparative genomic hybridization array and multiplex ligation probe assay techniques. In this patient we have confirmed, by MTM1 mRNA quantification, a MTM1 gene expression less than the expected 50 percent in patient muscle. The significant 20% reduction in MTM1 mRNA expression in muscle, precludes low level of the normal myotubularin protein as the cause of the phenotype in this heterozygous female. We have also found that BIN1 expression in patient muscle biopsy was significantly increased, and postulate that BIN1 expression will be increased in XLMTM patient muscle as an attempt to maintain muscle function.

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MTMR1

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