Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a <scp><i>MATR3</i></scp> mutation

Yamashita, Satoshi; Mori, Akira; Nishida, Yoshiaki; Kurisaki, Ryoichi; Tawara, Nozomu; Nishikami, T.; Misumi, Yohei; Ueyama, Hidetsugu; Imamura, Shigehiro; Higuchi, Yujiro; Hashiguchi, Akihiro; Higuchi, Itsuro; Morishita, Shinichi; Yoshimura, Junichi; Uchino, Makoto; Takashima, Hiroshi; Tsuji, Shoji; Ando, Yumiko

doi:10.1111/nan.12179

Cited by 24 publications

(35 citation statements)

References 19 publications

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“…The pathology that we observed in the Matrin 3 Tg mice appears to closely resemble that from distal myopathy cases with Matrin 3 mutation [6, 16, 18, 27, 34]. Many groups have reported gastrocnemius or tibialis anterior muscle containing fibers of variable size, increased subsarcolemmal nuclei, and the presence of vacuoles in affected individuals with Matrin 3 mutations, similar to that observed in our phenotypic mice in the context of wild-type Matrin 3 [6, 16, 18, 27, 34].…”

Section: Discussionmentioning

confidence: 85%

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RETRACTED ARTICLE: Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype

Moloney

Rayaprolu

Howard

et al. 2016

acta neuropathol commun

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons. Mutations in the gene encoding the nuclear matrix protein Matrin 3 have been found in familial cases of ALS, as well as autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. We previously found that spinal cord and muscle, organs involved in either ALS or distal myopathy, have relatively lower levels of Matrin 3 compared to the brain and other peripheral organs in the murine system. This suggests that these organs may be vulnerable to any changes in Matrin 3. In order to determine the role of Matrin 3 in these diseases, we created a transgenic mouse model for human wild-type Matrin 3 using the mouse prion promoter (MoPrP) on a FVB background.We identified three founder transgenic lines that produced offspring in which mice developed either hindlimb paresis or paralysis with hindlimb and forelimb muscle atrophy. Muscles of affected mice showed a striking increase in nuclear Matrin 3, as well as the presence of rounded fibers, vacuoles, nuclear chains, and subsarcolemmal nuclei. Immunoblot analysis of the gastrocnemius muscle from phenotypic mice showed increased levels of Matrin 3 products migrating at approximately 120 (doublet), 90, 70, and 55 kDa. While there was no significant change in the levels of Matrin 3 in the spinal cord in the phenotypic mice, the ventral horn contained individual cells with cytoplasmic redistribution of Matrin 3, as well as gliosis. The phenotypes of these mice indicate that dysregulation of Matrin 3 levels is deleterious to neuromuscular function.Electronic supplementary materialThe online version of this article (doi:10.1186/s40478-016-0393-5) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 85%

“…Senderek and colleagues later discovered the missense Ser85Cys mutation in Matrin 3 to be the cause of disease in this family [27]. Additionally, a Bulgarian and an Asian kindred have been found to have this mutation in association with distal myopathy [27, 34]. …”

Section: Introductionmentioning

confidence: 99%

RETRACTED ARTICLE: Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype

Moloney

Rayaprolu

Howard

et al. 2016

acta neuropathol commun

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“…1 A p.Ser85Cys mutation in MATR3 gene was later identified in this family, and also in one Bulgarian family and very recently, in seven families-six German and one Asian. [2][3][4] Muscle pathology of VCPDM was dominated by rimmed-vacuolar fibre degeneration. 1 2 This year, two other mutations in MATR3, p.Phe115Cys and p.Thr622Ala, have been reported to cause autosomal dominant amyotrophic lateral sclerosis (ALS).…”

Section: Introductionmentioning

confidence: 99%

Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

Palmio

Evilä

Bashir

et al. 2015

J Neurol Neurosurg Psychiatry

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“…Authors raised the possibility of minor upper motor neuron signs in four patients. Conversely, in a recently described Asian family with S85C MATR3 mutation a mixed myogenic and neurogenic pattern was detected on electrodiagnostic and muscle biopsy studies (122). Based on these results, there is evidence that the S85C MATR3 mutation is associated with both a pure distal myopathy phenotype and ALS/distal myopathy phenotype, in which combined myopathic and neurogenic features are present at clinical, EMG and muscle biopsy examination.…”

Section: Distal Myopathy and Matr3mentioning

confidence: 86%

“…TDP-43 and other autophagic markers (p62 and SMI-31) were components of the rimmedvacuolar pathology in S85C MATR3 myopathy (122).…”

Section: Distal Myopathy and Matr3mentioning

confidence: 99%

New ALS‐Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

Sabatelli¹,

Marangi²,

Conte³

et al. 2016

Brain Pathology

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Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly among patients. A number of genes have been identified and associated to familial and sporadic forms of ALS but the majority of cases remains still unexplained. Recent breakthrough discoveries have demonstrated that clinical manifestations associated with ALS-related genes are not circumscribed to motor neurons involvement. In this view, ALS appears to be linked to different conditions over a continuum or spectrum in which overlapping phenotypes may be identified. In this review, we aim to examine the increasing number of spectra, including ALS/Frontotemporal Dementia and ALS/Myopathies spectra. Considering all these neurodegenerative disorders as different phenotypes of the same spectrum can help to identify common pathological pathways and consequently new therapeutic targets in these incurable diseases.

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Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

Cited by 24 publications

References 19 publications

RETRACTED ARTICLE: Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype

RETRACTED ARTICLE: Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype

Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

New ALS‐Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

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