Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

Feit, Howard; Silbergleit, Allen; Schneider, Lori B.; Gutiérrez, Jorge; Fitoussi, Reine-Paule; Réyès, Cécile; Rouleau, Guy A.; Brais, Bernard; Jackson, Charles E.; Beckmann, Jacques S.; Seboun, Eric

doi:10.1086/302166

Cited by 130 publications

(99 citation statements)

References 21 publications

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“…The close proximity and/or direct interaction of calsarcins with these disease gene products raises the possibility that mutations in calsarcins may also cause muscular dystrophies. Intriguingly, a distinct myopathy, vocal cord and pharyngeal weakness with autosomal dominant distal myopathy (VCPDM), has been mapped to chromosome 5q31 (33), where according to the draft of the human genome the human calsarcin-3 gene is predicted to be located.…”

Section: Discussionmentioning

confidence: 99%

Calsarcin-3, a Novel Skeletal Muscle-specific Member of the Calsarcin Family, Interacts with Multiple Z-disc Proteins

Frey¹,

Olson

2002

Journal of Biological Chemistry

160

115

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The Z-disc is a highly specialized multiprotein complex of striated muscles that serves as the interface of the sarcomere and the cytoskeleton. In addition to its role in muscle contraction, its juxtaposition to the plasma membrane suggests additional functions of the Z-disc in sensing and transmitting external and internal signals. Recently, we described two novel striated muscle-specific proteins, calsarcin-1 and calsarcin-2, that bind ␣-actinin on the Z-disc and serve as intracellular binding proteins for calcineurin, a calcium/calmodulindependent phosphatase shown to be integral in cardiac hypertrophy as well as skeletal muscle differentiation and fiber-type specification. Here, we describe an additional member of the calsarcin family, calsarcin-3, which is expressed specifically in skeletal muscle and is enriched in fast-twitch muscle fibers. Like calsarcin-1 and calsarcin-2, calsarcin-3 interacts with calcineurin, and the Z-disc proteins ␣-actinin, ␥-filamin, and telethonin. In addition, we show that calsarcins interact with the PDZ-LIM domain protein ZASP/Cypher/Oracle, which also localizes to the Z-disc. Calsarcins represent a novel family of sarcomeric proteins that serve as focal points for the interactions of an array of proteins involved in Z-disc structure and signal transduction in striated muscle.

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Section: Discussionmentioning

confidence: 99%

Calsarcin-3, a Novel Skeletal Muscle-specific Member of the Calsarcin Family, Interacts with Multiple Z-disc Proteins

Frey¹,

Olson

2002

Journal of Biological Chemistry

160

115

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“…ALS21 (MIM #606070) represents a rare slowly-progressive autosomal dominant familial ALS linked to heterozygous missense mutations in the MATR3 gene (matrin3; 5q31.2), coding the matrin-3 protein, an internal matrix nuclear protein which interacts with TDP-43 participating in the aberrant processing of RNA and stabilizing messenger RNA 42,43 . ALS21 ( formerly the vocal cord and pharyngeal dysfunction with distal myopathy type 2) presents with adult-onset dystal myopathy with inclusion body myopathy-like features and vocal cord and pharyngeal weakness, occasionally with lower limbs brisk reflexes and tongue fasciculations and death after 15 years of symptom-onset.…”

Section: Als21mentioning

confidence: 99%

“…Other European cases were described in assocation with dementia and MND. Other Indian patient presented with adult-onset ALS and hyper-CKemia 42,43 .…”

Section: Als21mentioning

confidence: 99%

Clinical and genetic basis of familial amyotrophic lateral sclerosis

Souza

Pinto

Chieia

et al. 2015

Arq. Neuro-Psiquiatr.

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Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role ofC9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an important advance on the pathophysiology of the disease and genetic therapeutic perspectives, such as antisense therapy. The objective of this review is to signal and summarize clinical and genetic data related to familial forms of amyotrophic lateral sclerosis.

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“…LGMD1A at 5q22, coding for the protein myotilin (5), LGMD1B at 1q11, coding for lamin A/C (6), LGMD1C at 3p25 coding for caveolin-3 (7,8), LGMD1D at 6q23 (9), LGMD1E at 7q (10), and LGMD1F at 5q31 (11). Ten autosomal recessive forms have been mapped up to now and most of their protein products have been identified.…”

Section: Introductionmentioning

confidence: 99%

Protein defects in neuromuscular diseases

Vainzof

Zatz

2003

Braz J Med Biol Res

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Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. In recent years, several proteins from the sarcolemmal muscle membrane (dystrophin, sarcoglycans, dysferlin, caveolin-3), from the extracellular matrix (a2-laminin, collagen VI), from the sarcomere (telethonin, myotilin, titin, nebulin), from the muscle cytosol (calpain 3, TRIM32), from the nucleus (emerin, lamin A/C, survival motor neuron protein), and from the glycosylation pathway (fukutin, fukutin-related protein) have been identified. Mutations in their respective genes are responsible for different forms of neuromuscular diseases. Protein analysis using Western blotting or immunohistochemistry with specific antibodies is of the utmost importance for the differential diagnosis and elucidation of the physiopathology of each genetic disorder involved. Recent molecular studies have shown clinical inter-and intra-familial variability in several genetic disorders highlighting the importance of other factors in determining phenotypic expression and the role of possible modifying genes and protein interactions. Developmental studies can help elucidate the mechanism of normal muscle formation and thus muscle regeneration. In the last fifteen years, our research has focused on muscle protein expression, localization and possible interactions in patients affected by different forms of muscular dystrophies. The main objective of this review is to summarize the most recent findings in the field and our own contribution.

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Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

Cited by 130 publications

References 21 publications

Calsarcin-3, a Novel Skeletal Muscle-specific Member of the Calsarcin Family, Interacts with Multiple Z-disc Proteins

Calsarcin-3, a Novel Skeletal Muscle-specific Member of the Calsarcin Family, Interacts with Multiple Z-disc Proteins

Clinical and genetic basis of familial amyotrophic lateral sclerosis

Protein defects in neuromuscular diseases

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