Specificities of the DMD Gene Mutation Spectrum in Russian Patients

Zinina, Elena; Булах, М. В.; Чухрова, А. Л.; Рыжкова, О. П.; Sparber, Peter; Щагина, О. А.; Polyakov, A. V.; Kutsev, Sergey I.

doi:10.3390/ijms232112710

Cited by 3 publications

(1 citation statement)

References 47 publications

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“…20 One Russian study showed spectrum of dystrophin gene mutation that revealed 49% gross deletion, 14.5% duplications and 36.5% minor mutations and among which 19.3% turned out to be nonsense mutations. 21 Identification of this nonsense mutation is important for the therapeutic usage of read through medicines. Mutational analysis among 68 families of Kuwait revealed 66% deletion, 4.4% duplications and 5.8% nonsense mutations.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis among patients with Duchenne muscular dystrophy

Rafique¹,

Ibrahim²,

Ghani³

et al. 2023

PJNS

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Background and Objective: Duchenne Muscular Dystrophy is caused by mutations in dystrophin gene that include deletion, duplication and small mutations. Introduction to newer drug therapies in DMD is based on the type of mutation. The objective of this study was to assess distribution and percentage of different mutations among DMD patients. Methods: This retrospective cross-sectional study was conducted in Pediatric Neurology department of UCHS & Children Hospital Lahore. All the cases of Duchenne Muscular Dystrophy confirmed through genetic analysis from January 2022 to June 2022 through MLPA method were enrolled in the study. Data was recorded on detailed history and physical examination of the subjects and all lab investigations along with genetic study was reviewed to collect the data on given Performa. All the collected data was saved for final analysis. Results: Total 60 patients were enrolled in the study. The most common mutation was deletion, detected in 32 (56%) cases, duplication was detected in 10 (17.5%) cases and genetic study of 15 (26.5 ) patients was turned out to be normal. The most common deletion was found to be at 45-52 (43%) exons. Conclusion: The most common mutation among genetically confirmed cases of DMD was found to be deletion at 45-52 exons. This mutational evaluation is the first step toward trial of new medicines while treating DMD, as mechanism of action of new drugs is based on the type of mutation.

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Section: Discussionmentioning

confidence: 99%

Mutational analysis among patients with Duchenne muscular dystrophy

Rafique¹,

Ibrahim²,

Ghani³

et al. 2023

PJNS

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Cardiomyopathies Caused by Pathogenic Variants in the DMD Gene

Nagieva,

Lavrov,

Smirnikhina

2024

Kardiologiia

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DMD is a gene located on X chromosome that is responsible for the formation of the dystrophin protein. Pathogenic variants in the DMD gene cause diseases such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD is characterized by progressive muscle weakness, leading to loss of motor and respiratory functions, as well as cardiomyopathy and progressive heart failure due to the complete absence of dystrophin in the body. Patients with BMD synthesize a reduced amount of dystrophin, which distinguishes it from DMD by a milder clinical picture and an older age of onset. Cardiomyopathies are a common and, in some cases, the main manifestation of these pathologies. This review focuses on studies of diseases associated with dystrophinopathies, in which the main symptom is heart injury, cardiomyopathy, and also provides information about modern approaches to gene and targeted therapy for these diseases.

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The use of the drug ataluren for the treatment of patients with Duchenne muscular dystrophy in real clinical practice

Popovich,

Kuzenkova,

Uvakina

et al. 2024

Nevrol. ž. im. L.O. Badalâna

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Aim. To analyze anamnestic, clinical and paraclinical indicators in patients with Duchenne muscular dystrophy (DMD) receiving pathogenetic therapy with a drug for correcting nonsense mutations in the dmd gene — ataluren (translarna), to evaluate the safety of therapy and the dynamics of motor disorders in real clinical practice against the background of use drug. Materials and methods. The study included 24 patients with DMD receiving ataluren who were hospitalized at the Center for Pediatric Psychoneurology of the National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation for the period from January 2019 to February 2024. An analysis of anamnestic data, the most common clinical manifestations and paraclinical indicators, assessed the safety of the drug by the presence of serious adverse events leading to discontinuation of therapy, and the effectiveness of treatment using functional scales of motor activity: the “North Star” scale and the 6-minute walk test. Results. The age of onset of independent walking was 14.3 ± 2.6 months, the age of onset of the disease was 3.3 ± 2.6 years, the age of visiting a doctor was 4.25 ± 2.00 years, the age of diagnosis was 5.3 ± 2 ,3 years, age of initiation of glucocorticosteroids (GCS) — 6.3 ± 1.8 years. GCS in an adequate dose and regimen was taken by 13 (56%) patients. Cognitive, emotional-volitional and behavioral disorders were registered in 17 (70.8%) patients, excess body weight — in 6 (25%), and stiffness of the ankle joints — in 9 (37.5%).Pulmonary function was analyzed in 16 (66.6%) patients, of which a decrease was detected in 1 boy. No patient experienced a serious adverse event leading to discontinuation of ataluren. When assessing the effectiveness of treatment in a group of patients under 7 years of age (n = 11), 10 (91%) children showed improvement or stabilization of their condition according to the 6-minute walk test; in 6 (54.5%) — improvement in motor skills when analyzing scores on the “North Star” scale; in 5 (45.5%) the condition was stabilized. the group of patients over 7 years of age (n = 13), according to the 6-minute walk test, 4 (30.8%) children showed stabilization of the condition, 7 (53.8%) had disease progression, 2 (15.4%) the child entered the non-ambulatory stage. When analyzing scores on the “North Star” scale, 1 (7.7%) child showed improvement in performance, 6 (46.1%) — stabilization, 4 (30.8%) — decrease, 2 (15.4%) — loss outpatient. Conclusion. Early diagnosis of the disease and timely initiation of therapy in compliance with all standards of management of patients with DMD are crucial for maintaining motor function. Pathogenetic therapy with ataluren increases the duration of the outpatient stage, improving and/or stabilizing the motor skills of patients.

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Specificities of the DMD Gene Mutation Spectrum in Russian Patients

Cited by 3 publications

References 47 publications

Mutational analysis among patients with Duchenne muscular dystrophy

Mutational analysis among patients with Duchenne muscular dystrophy

Cardiomyopathies Caused by Pathogenic Variants in the DMD Gene

The use of the drug ataluren for the treatment of patients with Duchenne muscular dystrophy in real clinical practice

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