Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

Madej-Pilarczyk, Agnieszka; Kotruchow, Katarzyna; Kabzińska, Dagmara; Cegielska, Joanna; Kochański, Andrzej; Hausmanowa-Pétrusewicz, I

doi:10.5114/fn.2015.54428

Cited by 7 publications

(3 citation statements)

References 11 publications

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“…It is widely distributed in various tissues ( Wilson and Holzbaur, 2015 ). It is associated with neurological diseases, axonal neuropathy in several cases ( Madej-Pilarczyk et al, 2015 ) and plays a key role in neurogenesis and neuronal migration ( Zhang et al, 2009 ; Rajgor and Shanahan, 2013 ; Cartwright and Karakesisoglou, 2014 ). SYNE2 rs2781377 minor allele carriers have an increased risk of developing VIPN, which was proportional to the copy number of the risk A allele (OR 2.5; 95% CI 1.2–5.2; p = 0.01) ( Abaji et al, 2018 ).…”

Section: Pharmacogenomics Relevant To Vcrmentioning

confidence: 99%

Vincristine-Induced Peripheral Neuropathy in Childhood Acute Lymphoblastic Leukemia: Genetic Variation as a Potential Risk Factor

Yang

Guo

et al. 2021

Front. Pharmacol.

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Vincristine (VCR) is the first-line chemotherapeutic medication often co-administered with other drugs to treat childhood acute lymphoblastic leukemia. Dose-dependent neurotoxicity is the main factor restricting VCR’s clinical application. VCR-induced peripheral neuropathy (VIPN) sometimes results in dose reduction or omission, leading to clinical complications or affecting the patient’s quality of life. With regard to the genetic basis of drug responses, preemptive pharmacogenomic testing and simultaneous blood level monitoring could be helpful for the transformation of various findings into individualized therapies. In this review, we discussed the potential associations between genetic variants in genes contributing to the pharmacokinetics/pharmacodynamics of VCR and VIPN incidence and severity in patients with acute lymphoblastic leukemia. Of note, genetic variants in the CEP72 gene have great potential to be translated into clinical practice. Such a genetic biomarker may help clinicians diagnose VIPN earlier. Besides, genetic variants in other genes, such as CYP3A5, ABCB1, ABCC1, ABCC2, TTPA, ACTG1, CAPG, SYNE2, SLC5A7, COCH, and MRPL47, have been reported to be associated with the VIPN, but more evidence is needed to validate the findings in the future. In fact, a variety of complex factors jointly determine the VIPN. In implementing precision medicine, the combination of genetic, environmental, and personal variables, along with therapeutic drug monitoring, will allow for a better understanding of the mechanisms of VIPN, improving the effectiveness of VCR treatment, reducing adverse reactions, and improving patients’ quality of life.

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Section: Pharmacogenomics Relevant To Vcrmentioning

confidence: 99%

Vincristine-Induced Peripheral Neuropathy in Childhood Acute Lymphoblastic Leukemia: Genetic Variation as a Potential Risk Factor

Yang

Guo

et al. 2021

Front. Pharmacol.

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“…2). A genetic defect is most often localized in exons 1 and 6, while recurrent mutations are seen in codons 377 and 453 [23,25]. In the majority of EDMD2 patients, it is possible to find de novo mutation in the LMNA gene [9].…”

Section: Edmd2 (Laminopathy)mentioning

confidence: 99%

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Madej-Pilarczyk¹,

Kochański²

2016

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A b s t r a c t Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.

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“…The cell defect is generalized, but skeletal muscles, heart and joints are all selectively affected, with the ultimate effects being skeletal muscle atrophy, joint contractures and dilated cardiomyopathy, which is at the onset either clinically silent or preceded by conduction block and arrhythmias [13,14]. Sudden death both in patients and in carriers is not a rare event.…”

Section: Introductionmentioning

confidence: 99%

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Niebrój-Dobosz¹,

Sokołowska²,

Madej-Pilarczyk³

et al. 2017

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A b s t r a c t Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined. The total oxidant/ antioxidant status in serum was examined in 29 cases of Emery-Dreifuss muscular dystrophy. The study included 12 autosomal-dominant laminopathies (AD-EDMD), 17 X-linked emerinopathies (X-EDMD) and 20 age-matched normal subjects. Total oxidant status (TOS) was reduced in all cases, and the total antioxidant capacity (TAC) was found to be decreased in the majority of the patients (in 82.8%). A relationship between TOS level and disease progression was noted. No correlation between TOS/TAC level and cardiological or neurological parameters was detected.The results of the study indicate disturbances of redox balance in EDMD patients. Determination of TOS/TAC might help to assess the progress of the disease and the potential effectiveness of antioxidant therapy.

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Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

Abstract: A b s t r a c t In recent years numerous mutations in the LMNA

Cited by 7 publications

References 11 publications

Vincristine-Induced Peripheral Neuropathy in Childhood Acute Lymphoblastic Leukemia: Genetic Variation as a Potential Risk Factor

Vincristine-Induced Peripheral Neuropathy in Childhood Acute Lymphoblastic Leukemia: Genetic Variation as a Potential Risk Factor

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

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