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Last update 08 May 2025

MFSD8

Last update 08 May 2025

Basic Info

Synonyms

Ceroid-lipofuscinosis neuronal protein 7, CLN7, major facilitator superfamily domain containing 8

+ [3]

Introduction

Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium content by reducing the lysosomal membrane potential, thereby activating TRPML1 channel and further release of lysosomal calcium ions. Regulates the pH in endolysosomal compartments and may contribute to progressive acidification from endosome to lysosome. Permeable to other halides such as iodide and fluoride ions.

Drugs associated with MFSD8

AAV9-hCLN7 (Elpida Therapeutics)

Target

MFSD8

Mechanism

MFSD8 modulators

Active Org.

Elpida Therapeutics

Originator Org.

Elpida Therapeutics

Active Indication

Neuronal Ceroid-Lipofuscinoses

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

CLN7 gene therapy (Neurogene)

Target

MFSD8

Mechanism

MFSD8 modulators [+1]

Active Org.

Abeona Therapeutics, Inc.

Originator Org.

Abeona Therapeutics, Inc.

Active Indication

Neuronal Ceroid-Lipofuscinoses

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern)

Target

MFSD8

Mechanism

MFSD8 gene transference

Active Org.

The University of Texas Southwestern Medical Center [+1]

Originator Org.

Feinberg School of Medicine

Active Indication

Lysosomal Storage Diseases

Inactive Indication

Neuronal Ceroid-Lipofuscinoses

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with MFSD8

100 Translational Medicine associated with MFSD8

0 Patents (Medical) associated with MFSD8

123

Literatures (Medical) associated with MFSD8

01 Apr 2025·Molecular Cell

STING mediates lysosomal quality control and recovery through its proton channel function and TFEB activation in lysosomal storage disorders

Article

Author: Jeltema, Devon ; Huai, Wanwan ; Zhang, Yihe ; Sun, Lu O ; Dobbs, Nicole ; Yang, Kun ; Xing, Cong ; Araszkiewicz, Antonina ; Yan, Nan ; Tang, Zhen

Lysosomes are essential organelles for cellular homeostasis. Defective lysosomes are associated with diseases like lysosomal storage disorders (LSDs). How lysosomal defects are detected and lysosomal function restored remain incompletely understood. Here, we show that STING mediates a neuroinflammatory gene signature in three distinct LSD mouse models, Galc^twi/twi, Ppt1^-/-, and Cln7^-/-. Transcriptomic analysis of Galc^twi/twi mouse brain tissue revealed that STING also mediates the expression of lysosomal genes that are regulated by transcriptional factor EB (TFEB). Immunohistochemical and single-nucleus RNA-sequencing (snRNA-seq) analysis show that STING regulates lysosomal gene expression in microglia. Mechanistically, we show that STING activation leads to TFEB dephosphorylation, nuclear translocation, and expression of lysosomal genes. This process requires STING's proton channel function, the V-ATPase-ATG5-ATG8 cascade, and is independent of immune signaling. Furthermore, we show that the STING-TFEB axis facilitates lysosomal repair. Together, our data identify STING-TFEB as a lysosomal quality control mechanism that responds to lysosomal dysfunction.

01 Mar 2025·RETINAL Cases & Brief Reports

MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY

Article

Author: Breazzano, Mark P. ; Borrelli, Enrico ; Reibaldi, Michele ; Vallino, Veronica ; Pasini, Barbara ; Gelormini, Francesco

Purpose:The objective of this study was to report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric nonsyndromic macular dystrophy.Methods:A 63-year-old female patient presented complaining of a gradual subjective decline in VA in both eyes over the previous months. This patient underwent a comprehensive ophthalmological assessment, including multimodal retinal imaging and electrophysiological testing. Given suspicion for a hereditary retinal disorder, genetic testing was pursued.Results:The eye examination revealed blunted foveal reflexes and no lesions or abnormalities in the equatorial or anterior retinal periphery. Multimodal imaging showed a bilateral and almost symmetrical subfoveal interruption of the outer retinal layers, including an optical gap. Genetic testing revealed that the MFSD8/CLN7 gene exhibited a homozygous variant, specifically p.Ala484Val (c.1451C>T). This variant was identified as the likely causative factor for the condition.Conclusion:In this study, the authors describe the clinical findings of a previously unreported homozygous variant in the MFSD8/CLN7 gene, resulting in a nonsyndromic form of bilateral central macular dystrophy.

01 Jan 2025·Journal of the Neurological Sciences

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation –A single centre experience of 56 cases

Article

Author: Yasha, T C ; Ravi Shekar, J ; Nagappa, Madhu ; Bhatia, Saloni ; Nagaraj, A R ; Kumar, Tumulu Seetam ; Sukrutha, Ramya ; Padmanabha, Hansashree ; Karthik, K ; Mahadevan, Anita ; Sinha, Sanjib ; Pooja, M ; Mahale, Rohan ; Thuppanattumadam Ananthasubramanian, Sangeeth ; Ravindranadh, C M ; Viswananthan, L G ; Santhoshkumar, Rashmi ; Kenchiah, Raghavendra ; Arunachal, Gautham ; Nashi, Saraswati

BACKGROUNDNeuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.METHODSA retrospective analysis was conducted on 56 genetically confirmed NCL patients diagnosed between January 2018 and June 2024 at a specialized neurological center in South India. Genetic analysis using next-generation sequencing (NGS) were performed, with variants classified as per ACMG guidelines. Clinical, electroencephalographic (EEG), imaging, and electron microscopy (EM) findings were reviewed, and genotype-phenotype correlations were analyzed.RESULTSThe cohort (33 males, 23 females) had a median age of onset of 36 months and a median disease duration of 65.5 months. Eight genetic subtypes were identified, with predominant mutations in TPP1 (19.64%), CLN6, MFSD8, and CLN8 (16.07% each). Seizures (75%), regression of milestones (87.5%), visual impairment (33.9%), and ataxia (57.1%) were common. EEG abnormalities were found in 76.3%, MRI revealed cerebellar atrophy in 89.13%, and thalamic T2 hypo-intensity in 91.3%. EM showed curvilinear and fingerprint profiles. Of the identified variants, 31 were previously reported, while 29 were novel.CONCLUSIONThis is the largest single-center NCL cohort in South Asia, highlighting a diverse genetic spectrum and significant novel variants, underscoring the importance of genetic testing for diagnosis and future therapies.

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MFSD8

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