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Last update 23 Jan 2025

ATN1

Last update 23 Jan 2025

Basic Info

Synonyms

ATN1, atrophin 1, Atrophin-1

+ [4]

Introduction

Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.

Drugs associated with ATN1

nL-ATN1-002

Target

ATN1

Mechanism

ATN1 gene modulators

Active Org.

n-Lorem Foundation

Originator Org.

n-Lorem Foundation

Active Indication-

Inactive Indication-

Drug Highest PhasePhase 1/2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

SRT-520

Target

ATN1

Mechanism

ATN1 gene modulators

Active Org.-

Originator Org.

Smart Therapeutics, Inc.

Active Indication-

Inactive Indication

Spinocerebellar Degenerations

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with ATN1

NCT06706388

/ Active, not recruitingPhase 1/2IIT

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1

Start Date21 Feb 2024

Sponsor / Collaborator

n-Lorem Foundation

[+1]

100 Clinical Results associated with ATN1

100 Translational Medicine associated with ATN1

0 Patents (Medical) associated with ATN1

369

Literatures (Medical) associated with ATN1

01 Feb 2025·Practical Neurology

Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea

Article

Author: Lal, Vivek ; Mehta, Sahil ; Singh, Jagdeep ; Harisankar, Karthik

A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.

01 Dec 2024·Gene

Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients

Review

Author: Tang, Kaichen ; Sun, Miao ; Fan, Shiqi ; Chen, Jinxiao ; Chen, Qian

OBJECTIVEDentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disease caused by CAG overexpansion (≥48 tandem copies) in ATN1. The aim of this research was to explore the genetic cause of a large Chinese DRPLA pedigree and to review the characteristics of Chinese DRPLA patients.METHODSSuspected variants were screened by high-throughput sequencing. The number of CAG repeats was assessed by polymerase chain reaction using FAM-labeled primers followed by capillary electrophoresis. Literature on previously reported DRPLA cases with overexpanded ATN1 CAG repeats in China was reviewed.RESULTSAfter contracting a lung infection, the proband suffered early-onset DRPLA symptoms and novel phenotypes, transitioning from insomnia to stupor. The numbers of CAG repeats in the proband, her grandfather, father, mother, brother, and aunt were 8/81, 17/54, 10/57, 8/10, 10/10, and 10/17, respectively. Possible incomplete penetrance was observed in this pedigree.CONCLUSIONWe described a large Chinese DRPLA pedigree in which the proband carried the largest CAG expansion reported in China. We also reviewed the characteristics of Chinese DRPLA patients and broadened the phenotypic spectrum.

01 Nov 2024·Movement Disorders

IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA

Article

Author: Ito, Yoko ; Ellezam, Benjamin ; Boycott, Kym M. ; Lewis, Evan C. ; Kernohan, Kristin D. ; Dyment, David A. ; Venkateswaran, Sunita ; Michaud, Jean ; Geraghty, Michael

AbstractBackgroundChildhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurodegeneration consisting of spasticity, dystonia, and ataxia in which postmortem pathological analysis led to the diagnosis of interferon regulatory factor 2 binding protein like (IRF2BPL)‐related disorder.MethodsDetailed postmortem gross and histological examination was conducted, and findings consistent with dentatorubral‐pallidoluysian atrophy (DRPLA) and included polyglutamine (polyQ) inclusions. Follow up testing for the CAG repeat expansion at ATN1 was non‐diagnostic.ResultsSubsequent exome sequencing reanalysis of the research exome identified a pathogenic de novo IRF2BPL variant. The IRF2BPL c.562C>T, p.(Arg188Ter) variant, distal to the polyQ repeat tract, results in variable mRNA levels depending on the cell type examined with decreased mRNA in the brain, as well as destabilization of the protein product and corresponding downstream molecular abnormalities in patient derived cells.ConclusionWe provide the first detailed pathological description for IRF2BPL‐related disorder, termed NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures; Mendelian Inheritance in Man, 618088) and evidence for the inclusion of this condition in the differential diagnosis of spastic‐ataxic neurodegenerative conditions, reminiscent of DRPLA. Although the individuals with NEDAMSS do not carry an expansion, the polyQ repeat tract may play a role in the pathological inclusions that would represent a novel disease mechanism for polyQ repeats. © 2024 International Parkinson and Movement Disorder Society.

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