Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Hoz, Carlos de Fuenmayor-Fernández de Pablo la; Hernández-Laín, Aurelio; Olivé, Montse; Fernández–Marmiesse, Ana; Domínguez‐González, Cristina

doi:10.1016/j.nmd.2016.07.003

Cited by 19 publications

(8 citation statements)

References 22 publications

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“…On the contrary, distal involvement is frequently described in LGMD2G patients, sometimes also at early stages [6-14-19], especially in lower limbs, presenting with foot-drop and involvement of tibialis anterior muscles. As well as in our patient, this feature was predominant also in other subjects with LGMD2G [6][7][8][9][10][11][12][13][14][15][16][17]. Respiratory involvement or cardiomyopathy was not reported in both cases, consistently with the majority of previous reports; extrasystolia had been described only in the Turkish patient.…”

Section: Discussionsupporting

confidence: 91%

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa

Magri

Papadimitriou

et al. 2018

Neuromuscular Disorders

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Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities. Next generation sequencing analysis detected a homozygous frameshift mutation in the TCAP gene (c.90_91del), previously described in one Turkish family. Immunostaining and Western blot analysis showed complete absence of telethonin. Interestingly, Single Nucleotide Polymorphism analysis of the 10 Mb genomic region containing the TCAP gene showed a shared homozygous haplotype of both the Greek and the Turkish patients, thus suggesting a possible founder effect of TCAP gene c.90_91del mutation in this part of the Mediterranean area.

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Section: Discussionsupporting

confidence: 91%

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa

Magri

Papadimitriou

et al. 2018

Neuromuscular Disorders

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“…Inflammatory exudates with abundant macrophages were described in 1 patient with recessive calpainopathy . Other hereditary myopathies that have been reported to show significant numbers of lobulated fibers include Bethlem myopathy, dystrophinopathy, FSHD, α‐sarcoglycanopathy (LGMD2D), telethoninopathy (LGMD2G), and valosin‐containing protein (VCP)‐associated myopathy . Only 70% of patients with recessive calpainopathy have quantitative calpain‐3 deficiency by immunoblot.…”

Section: Lgmd Subgroupsmentioning

confidence: 99%

“…These patients may also have distal weakness, scapular winging, and cardiac involvement, similar to other Z‐disk proteinopathies, resulting in MFM. Muscle biopsy may reveal rimmed vacuoles in telethoninopathy, but MFM pathology has not been reported …”

Section: Lgmd Subgroupsmentioning

confidence: 99%

“…76 Other hereditary myopathies that have been reported to show significant numbers of lobulated fibers include Bethlem myopathy, dystrophinopathy, FSHD, a-sarcoglycanopathy (LGMD2D), telethoninopathy (LGMD2G), and valosin-containing protein (VCP)associated myopathy. [77][78][79][80] Only 70% of patients with recessive calpainopathy have quantitative calpain-3 deficiency by immunoblot. The remaining 30% of patients may have mutations that alter protein function, but not quantity, manifesting with compromised autolytic calpain-3 activity.…”

Section: Figurementioning

confidence: 99%

“…Muscle biopsy may reveal rimmed vacuoles in telethoninopathy, but MFM pathology has not been reported. 80 Other LGMD Subtypes. There are 5 LGMD subtypes that do not belong to any of the 7 LGMD subgroups described, and are presented in Table 3.…”

Section: Muscular Dystrophies With Defective Membranementioning

confidence: 99%

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Untangling the complexity of limb‐girdle muscular dystrophies

Liewluck

Milone

2018

Muscle and Nerve

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The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically identified muscular dystrophies with an LGMD phenotype not yet classified as LGMD. This highlights the entanglement of LGMDs, which represents an area in continuous expansion. Herein we aim to simplify the complexity of LGMDs by subgrouping them on the basis of the underlying defective protein and impaired function. Muscle Nerve 58: 167-177, 2018.

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A muscle‐specific MuRF1‐E2 network requires stabilization of MuRF1‐E2 complexes by telethonin, a newly identified substrate

Polge

Cabantous

Deval

et al. 2017

J cachexia sarcopenia muscle

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BackgroundMuscle wasting is observed in the course of many diseases and also during physiological conditions (disuse, ageing). Skeletal muscle mass is largely controlled by the ubiquitin‐proteasome system and thus by the ubiquitinating enzymes (E2s and E3s) that target substrates for subsequent degradation. MuRF1 is the only E3 ubiquitin ligase known to target contractile proteins (α‐actin, myosins) during catabolic situations. However, MuRF1 depends on E2 ubiquitin‐conjugating enzymes for ubiquitin chain formation on the substrates. MuRF1‐E2 couples are therefore putative targets for preventing muscle wasting.MethodsWe focused on 14 E2 enzymes that are either expressed in skeletal muscle or up‐regulated during atrophying conditions. In this work, we demonstrated that only highly sensitive and complementary interactomic approaches (surface plasmon resonance, yeast three‐hybrid, and split green fluorescent protein) allowed the identification of MuRF1 E2 partners.ResultsFive E2 enzymes physically interacted with MuRF1, namely, E2E1, E2G1, E2J1, E2J2, and E2L3. Moreover, we demonstrated that MuRF1‐E2E1 and MuRF1‐E2J1 interactions are facilitated by telethonin, a newly identified MuRF1 substrate. We next showed that the five identified E2s functionally interacted with MuRF1 since, in contrast to the non‐interacting E2D2, their co‐expression in HEK293T cells with MuRF1 led to increased telethonin degradation. Finally, we showed that telethonin governed the affinity between MuRF1 and E2E1 or E2J1.ConclusionsWe report here the first MuRF1‐E2s network, which may prove valuable for deciphering the precise mechanisms involved in the atrophying muscle programme and for proposing new therapeutical approaches.

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Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Cited by 19 publications

References 22 publications

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Untangling the complexity of limb‐girdle muscular dystrophies

A muscle‐specific MuRF1‐E2 network requires stabilization of MuRF1‐E2 complexes by telethonin, a newly identified substrate

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