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Article ; Online: Adipose invasion of muscle in Wagyu cattle: Monitoring by histology and melting temperature.

Valenzuela, J L / Lloyd, S S / Mastaglia, F L / Dawkins, R L

2020 Volume 163, Page(s) 108063

Abstract: Remarkably, Wagyu cattle progressively desaturate intramuscular and subcutaneous fat leading to melting temperatures (Tm) well below 38°C. In parallel, the adipose tissue expands, arborises and invades the muscle. The process is aggressive in that it ... ...

Abstract	Remarkably, Wagyu cattle progressively desaturate intramuscular and subcutaneous fat leading to melting temperatures (Tm) well below 38°C. In parallel, the adipose tissue expands, arborises and invades the muscle. The process is aggressive in that it leads to loss of myofibres resulting in much smaller fascicles and therefore fine marbling or snowflaking. The "Microscopic score" appears to be an excellent measure of marbling especially for lesser and greater degrees which are not quantified reliably by others methods. By comparing muscle groups, we conclude that the tailhead is a suitable site for sequential monitoring. Melting temperatures of intramuscular and subcutaneous tissue are also useful.
MeSH term(s)	Adipose Tissue/anatomy & histology ; Adipose Tissue/chemistry ; Animals ; Body Fat Distribution ; Cattle ; Muscle, Skeletal/anatomy & histology ; Muscle, Skeletal/metabolism ; Myofibrils ; Red Meat/analysis ; Transition Temperature
Language	English
Publishing date	2020-01-23
Publishing country	England
Document type	Journal Article
ZDB-ID	753319-6
ISSN	1873-4138 ; 0309-1740
ISSN (online)	1873-4138
ISSN	0309-1740
DOI	10.1016/j.meatsci.2020.108063
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Article ; Online: Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

Roberts, Bradley / Theunissen, Frances / Mastaglia, Francis L / Akkari, P Anthony / Flynn, Loren L

International journal of molecular sciences

2022 Volume 23, Issue 16

Abstract: Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease classified as both a neurodegenerative and neuromuscular disorder. With a complex aetiology and no current cure for ALS, broadening the understanding of disease ... ...

Abstract	Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease classified as both a neurodegenerative and neuromuscular disorder. With a complex aetiology and no current cure for ALS, broadening the understanding of disease pathology and therapeutic avenues is required to progress with patient care. Alpha-synuclein (αSyn) is a hallmark for disease in neurodegenerative disorders, such as Parkinson's disease, Lewy body dementia, and multiple system atrophy. A growing body of evidence now suggests that αSyn may also play a pathological role in ALS, with αSyn-positive Lewy bodies co-aggregating alongside known ALS pathogenic proteins, such as
MeSH term(s)	Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/therapy ; Humans ; Lewy Bodies/metabolism ; Lewy Body Disease/pathology ; Multiple System Atrophy/pathology ; Synucleinopathies ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism
Chemical Substances	alpha-Synuclein
Language	English
Publishing date	2022-08-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23169364
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Article ; Online: Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.

Theunissen, Frances / Anderton, Ryan S / Mastaglia, Frank L / James, Ian / Bedlack, Richard / Akkari, P Anthony

Scientific reports

2022 Volume 12, Issue 1, Page(s) 14739

Abstract: Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) ... ...

Abstract	Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) repeat variant in NEFH was selected using an in-silico short structural variant (SSV) evaluation algorithm and investigated in two cohorts of North American sALS patients, both separately and combined (Duke cohort n = 138, Coriell cohort n = 333; combined cohort n = 471), compared to a group of healthy controls from the Coriell Institute biobank (n = 496). Stratification according to site of disease onset revealed that the 9 TTTA allele was associated with reduced disease risk, specifically confined to spinal-onset sALS patients in the Duke cohort (p = 0.001). Furthermore, carriage of the 10 TTTA allele was associated with a 2.7 year later age of disease onset in the larger combined sALS cohort (p = 0.02). These results suggest that the 9 and 10 TTTA motif length may have a protective advantage for potentially lowering the risk of sALS and delaying the age of disease onset, however, these results need to be replicated in larger multicenter and multi-ethnic cohorts.
MeSH term(s)	Amyotrophic Lateral Sclerosis/epidemiology ; Amyotrophic Lateral Sclerosis/genetics ; Genetic Predisposition to Disease ; Humans ; Intermediate Filaments ; Mutation ; Neurofilament Proteins/genetics ; Polymorphism, Genetic
Chemical Substances	Neurofilament Proteins ; neurofilament protein H (108688-71-7)
Language	English
Publishing date	2022-08-30
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-18942-x
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Article: Sporadic inclusion body myositis: variability in prevalence and phenotype and influence of the MHC.

Mastaglia, F L

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

2010 Volume 28, Issue 2, Page(s) 66–71

Abstract: Sporadic inclusion body myositis (sIBM) is the most common myopathy presenting over the age of 40 years but its prevalence varies considerably in different populations. Genetic factors play a part in the pathogenesis of sIBM and in Caucasians ... ...

Abstract	Sporadic inclusion body myositis (sIBM) is the most common myopathy presenting over the age of 40 years but its prevalence varies considerably in different populations. Genetic factors play a part in the pathogenesis of sIBM and in Caucasians susceptibility has been linked to the HLA-DR3 allele and the 8.1 MHC ancestral haplotype (AH) which is also associated with other autoimmune diseases. The variable prevalence of sIBM in different populations may be related to differences in the population frequency of this haplotype. Our recent observations indicate that the clinical phenotype at presentation is also quite variable and that the influence of the MHC is more complex than previously appreciated with HLA alleles also having modifying effects on the age-at-onset, severity and rate of progression of the disease. Recent recombinant mapping studies of polymorphisms in the Class II/III regions of the MHC by our group have further refined the susceptibility region and have identified a number of candidate genes warranting further investigation. The significance of these findings for the pathogenesis of the disease is discussed.
MeSH term(s)	Age of Onset ; Disease Progression ; Disease Susceptibility ; Genetics, Population ; Haplotypes ; Humans ; Major Histocompatibility Complex/genetics ; Muscle, Skeletal/pathology ; Myositis, Inclusion Body/epidemiology ; Myositis, Inclusion Body/genetics ; Myositis, Inclusion Body/pathology ; Pedigree ; Phenotype ; Prevalence
Language	English
Publishing date	2010-02-01
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	2102328-1
ISSN	1128-2460
ISSN	1128-2460
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Article ; Online: What to do ... When the treatment does not work: polymyositis.

Mastaglia, F L

Postgraduate medical journal

2008 Volume 84, Issue 993, Page(s) 382–384

MeSH term(s)	Diagnosis, Differential ; Drug Resistance ; Humans ; Myositis, Inclusion Body/diagnosis ; Myositis, Inclusion Body/drug therapy ; Polymyositis/diagnosis ; Polymyositis/drug therapy ; Recurrence ; Treatment Failure
Language	English
Publishing date	2008-07
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80325-x
ISSN	1469-0756 ; 0032-5473
ISSN (online)	1469-0756
ISSN	0032-5473
DOI	10.1136/jnnp.2007.142562
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Article ; Online: When the treatment does not work: polymyositis.

Mastaglia, F L

Practical neurology

2008 Volume 8, Issue 3, Page(s) 170–174

MeSH term(s)	Aged ; Dysferlin ; Female ; Humans ; Inclusion Bodies/pathology ; Male ; Membrane Proteins/deficiency ; Middle Aged ; Muscle Proteins/deficiency ; Polymyositis/etiology ; Polymyositis/pathology ; Polymyositis/therapy
Chemical Substances	DYSF protein, human ; Dysferlin ; Membrane Proteins ; Muscle Proteins
Language	English
Publishing date	2008-06
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2170881-2
ISSN	1474-7766 ; 1474-7758
ISSN (online)	1474-7766
ISSN	1474-7758
DOI	10.1136/jnnp.2007.142562
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Zs.A 6001: Show issues

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Article ; Online: Statin myotoxicity: a review of genetic susceptibility factors.

Needham, M / Mastaglia, F L

Neuromuscular disorders : NMD

2014 Volume 24, Issue 1, Page(s) 4–15

Abstract: The 3-hydroxy-3-methylglutaryl coenzyme A (HMGCoA) reductase inhibitors (statins) are among the most common medications prescribed worldwide, but their efficacy and toxicity vary between individuals. One of the major factors contributing to intolerance ... ...

Abstract	The 3-hydroxy-3-methylglutaryl coenzyme A (HMGCoA) reductase inhibitors (statins) are among the most common medications prescribed worldwide, but their efficacy and toxicity vary between individuals. One of the major factors contributing to intolerance and non-compliance are the muscle side-effects, which range from mild myalgia through to severe life-threatening rhabdomyolysis. One way to address this is pharmacogenomic screening, which aims to individualize therapy to maximize efficacy whilst avoiding toxicity. Genes encoding proteins involved in the metabolism of statins as well as genes known to cause inherited muscle disorders have been investigated. To-date only polymorphisms in the SLCO1B1 gene, which encodes the protein responsible for hepatic uptake of statins, and the COQ2 gene, important in the synthesis of coenzyme Q10, have been validated as being strongly associated with statin-induced myopathy. The aim of this review is to summarize studies investigating genetic factors predisposing to statin myopathy and myalgia, as the first step towards pharmacogenomic screening to identify at risk individuals.
MeSH term(s)	Genetic Predisposition to Disease ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects ; Muscular Diseases/chemically induced ; Muscular Diseases/genetics ; Pharmacogenetics ; Risk Factors
Chemical Substances	Hydroxymethylglutaryl-CoA Reductase Inhibitors
Language	English
Publishing date	2014-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2013.09.011
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Zs.A 3258: Show issues

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Jg. 1995 - 2021: Lesesall (2.OG)
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Article ; Online: Cytokines in immune-mediated inflammatory myopathies: cellular sources, multiple actions and therapeutic implications.

Moran, E M / Mastaglia, F L

Clinical and experimental immunology

2014 Volume 178, Issue 3, Page(s) 405–415

Abstract: The idiopathic inflammatory myopathies are a heterogeneous group of disorders characterised by diffuse muscle weakness and inflammation. A common immunopathogenic mechanism is the cytokine-driven infiltration of immune cells into the muscle tissue. ... ...

Abstract	The idiopathic inflammatory myopathies are a heterogeneous group of disorders characterised by diffuse muscle weakness and inflammation. A common immunopathogenic mechanism is the cytokine-driven infiltration of immune cells into the muscle tissue. Recent studies have further dissected the inflammatory cell types and associated cytokines involved in the immune-mediated myopathies and other chronic inflammatory and autoimmune disorders. In this review we outline the current knowledge of cytokine expression profiles and cellular sources in the major forms of inflammatory myopathy and detail the known mechanistic functions of these cytokines in the context of inflammatory myositis. Furthermore, we discuss how the application of this knowledge may lead to new therapeutic strategies for the treatment of the inflammatory myopathies, in particular for cases resistant to conventional forms of therapy.
MeSH term(s)	Animals ; Autoantibodies/immunology ; Cytokines/physiology ; Dermatomyositis/immunology ; Humans ; Myositis/drug therapy ; Myositis/etiology ; Myositis/immunology ; Polymyositis/immunology ; Tumor Necrosis Factor-alpha/antagonists & inhibitors
Chemical Substances	Autoantibodies ; Cytokines ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2014-09-15
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	218531-3
ISSN	1365-2249 ; 0009-9104 ; 0964-2536
ISSN (online)	1365-2249
ISSN	0009-9104 ; 0964-2536
DOI	10.1111/cei.12445
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Article: Inflammatory muscle diseases.

Mastaglia, F L

Neurology India

2008 Volume 56, Issue 3, Page(s) 263–270

Abstract: The three major immune-mediated inflammatory myopathies, dermatomyositis (DM), polymyositis (PM) and inclusion body myositis (IBM), each have their own distinctive clinical features, underlying pathogenetic mechanisms and patterns of muscle gene ... ...

Abstract	The three major immune-mediated inflammatory myopathies, dermatomyositis (DM), polymyositis (PM) and inclusion body myositis (IBM), each have their own distinctive clinical features, underlying pathogenetic mechanisms and patterns of muscle gene expression. In DM a complement-dependent humoral process thought to be initiated by antibodies to endothelial cells results in a microangiopathy with secondary ischemic changes in muscles. On the other hand, in PM and IBM there is a T-cell response with invasion of muscle fibers by CD8+ lymphocytes and perforin-mediated cytotoxic necrosis. In IBM degenerative changes are also a feature and comprise autophagia with rimmed vacuole formation and inclusions containing beta-amyloid and other proteins whose accumulation may be linked to impaired proteasomal function. The relationship between the inflammatory and degenerative component remains unclear, as does the basis for the selective vulnerability of certain muscles and the resistance to conventional forms of immunotherapy in most cases of IBM. Patients with DM or PM usually respond to treatment with glucocorticoids and immunosuppressive agents but their use remains largely empirical. Intravenous immunoglobulin therapy can be used to achieve disease control in patients with severe weakness or dysphagia, or in patients with immunodeficiency, but its use is limited by expense. Emerging therapies for resistant cases include TNFalpha inhibitors (etanercept, infliximab) and monoclonal antibodies (rituximab, alemtuzumab). However, experience with these therapies is still limited and there is a need for randomized trials to test their efficacy and establish guidelines for their use in clinical practice.
MeSH term(s)	Animals ; Dermatomyositis/immunology ; Dermatomyositis/pathology ; Dermatomyositis/therapy ; Humans ; Myositis/classification ; Myositis/immunology ; Myositis/pathology ; Myositis/therapy ; Myositis, Inclusion Body/immunology ; Myositis, Inclusion Body/pathology ; Myositis, Inclusion Body/therapy ; Polymyositis/immunology ; Polymyositis/pathology ; Polymyositis/therapy
Language	English
Publishing date	2008-10-28
Publishing country	India
Document type	Journal Article ; Review
ZDB-ID	415522-1
ISSN	1998-4022 ; 0028-3886
ISSN (online)	1998-4022
ISSN	0028-3886
DOI	10.4103/0028-3886.43444
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Zs.A 698: Show issues

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Article: Adipose invasion of muscle in Wagyu cattle: Monitoring by histology and melting temperature

Valenzuela, J.L / Lloyd, S.S / Mastaglia, F.L / Dawkins, R.L

Meat science. 2020 May, v. 163

2020

Abstract	Remarkably, Wagyu cattle progressively desaturate intramuscular and subcutaneous fat leading to melting temperatures (Tm) well below 38°C. In parallel, the adipose tissue expands, arborises and invades the muscle. The process is aggressive in that it leads to loss of myofibres resulting in much smaller fascicles and therefore fine marbling or snowflaking.The “Microscopic score” appears to be an excellent measure of marbling especially for lesser and greater degrees which are not quantified reliably by others methods.By comparing muscle groups, we conclude that the tailhead is a suitable site for sequential monitoring. Melting temperatures of intramuscular and subcutaneous tissue are also useful.
Keywords	Wagyu ; adipose tissue ; cattle ; histology ; marbling ; melting ; melting point ; monitoring ; muscles ; subcutaneous fat ; temperature
Language	English
Dates of publication	2020-05
Publishing place	Elsevier Ltd
Document type	Article
ZDB-ID	753319-6
ISSN	1873-4138 ; 0309-1740
ISSN (online)	1873-4138
ISSN	0309-1740
DOI	10.1016/j.meatsci.2020.108063
Database	NAL-Catalogue (AGRICOLA)

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