A Versatile Method for Gene Dosage Quantification: Genotyping of the Spinal Muscular Atrophy Related Locus Case Study

2017 ◽  
Vol 1 (2) ◽  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Gene Dosage

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy

2017 ◽  
Vol 55 (3) ◽  
Author(s):  
Liang Li ◽  
Wan-Jun Zhou ◽  
Ping Fang ◽  
Ze-Yan Zhong ◽  
Jian-Sheng Xie ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Quantitative Pcr ◽  
Muscular Atrophy ◽  
Gene Dosage ◽  
Cost Effective ◽  
Qpcr Assay ◽  
Alternative Methods ◽  
Cost Effective Method ◽  
Gene Structures ◽  
Accuracy Rates

AbstractBackground:Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA.Methods:A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number ofResults:The multiplex quantitative PCR (qPCR) assay had higher reproducibility. Intra-assay CVs were 3.01%–8.52% and inter-assay CVs were 4.12%–6.24%. The CNVplex assay had ratios that were closer to expected (0.49–0.5 for one copy, 1.03–1.0 for two copies, and 1.50–1.50 for three copies). Diagnostic accuracy rates for the two assays were 100%.Conclusions:The multiplex qPCR assay was a simple, rapid, and cost-effective method for routine SMA diagnosis and carrier screening. The CNVplex assay could be used to detect SMAs with complicated gene structures. The assays were reliable and could be used as alternative methods for clinical diagnosis of SMA.

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

Neurogenetics ◽  
2006 ◽  
Vol 7 (4) ◽  
pp. 269-276 ◽  
Author(s):  
Oronzo Scarciolla ◽  
Liborio Stuppia ◽  
Maria Vittoria De Angelis ◽  
Stefania Murru ◽  
Chiara Palka ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Gene Dosage ◽  
Dependent Probe

scholarly journals ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway

2019 ◽  
Vol 13 ◽  
pp. 117906951986791 ◽  
Author(s):  
Xiaoting Jiang ◽  
Annapoorna Kannan ◽  
Laxman Gangwani
Keyword(s):  
Spinal Muscular Atrophy ◽  
Signaling Pathway ◽  
Zinc Finger Protein ◽  
Muscular Atrophy ◽  
Gene Dosage ◽  
Mapk Signaling ◽  
Nuclear Accumulation ◽  
Neuron Degeneration ◽  
Jnk Signaling ◽  
Jnk Signaling Pathway

The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage. Mutation of the survival motor neuron 1 ( SMN1) gene causes SMA. Spinal muscular atrophy is characterized by the degeneration of the spinal cord motor neurons caused by chronic low levels of SMN protein. ZPR1 interacts with SMN and is required for nuclear accumulation of SMN. Patients with SMA express reduced levels of ZPR1. Reduced Zpr1 gene dosage increases neurodegeneration and severity of SMA disease in mice. Mechanisms underlying ZPR1-dependent neurodegeneration are largely unknown. We report that neurodegeneration caused by ZPR1 deficiency is mediated by the c-Jun NH2-terminal kinase (JNK) group of mitogen-activated protein kinases (MAPK). ZPR1-dependent neuron degeneration is mediated by central nervous system (CNS)-specific isoform JNK3. ZPR1 deficiency activates the MAPK signaling cascade, MLK3 → MKK7 → JNK3, which phosphorylates c-Jun and activates caspase-mediated neuron degeneration. Neurons from Jnk3-null mice show resistance to ZPR1-dependent neurodegeneration. Pharmacologic inhibition of JNK reduces degeneration of ZPR1-deficient neurons. These data show that ZPR1-dependent neurodegeneration is mediated by the JNK signaling pathway and suggest that ZPR1 downregulation in SMA may contribute to JNK-mediated neurodegeneration associated with SMA pathogenesis.

scholarly journals Spinal Muscle Atrophy: Clinical Cases

2021 ◽  
Vol 23 (2) ◽  
pp. 149-153
Author(s):  
Pamela Tainá Licoviski ◽  
Clara Victoria Bini ◽  
Alisson Grégori Turski ◽  
Greicy Kelly de Oliveira Bruno ◽  
Luana Cristina Borchardt ◽  
...  
Keyword(s):  
Physical Examination ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Neuromuscular Diseases ◽  
Respiratory Muscles ◽  
Lower Limbs ◽  
Respiratory Pattern ◽  
Type I ◽  
Clinical Case Study

AbstractSpinal muscular atrophy (EBF) is an autosomal recessive neuromuscular disease with genetic inheritance. EBF is classified into: type I - patients have symptoms up to 6 months of age; type II - after 6 months of age, symptoms begin; type III - it starts after 18 months of age. The objective of this study was to clinically characterize two brothers diagnosed with EBF. It is a clinical case study of two individuals, male gender, attended at Clínica Escola de Fisioterapia, at Universidade Estadual do Centro Oeste do Paraná- UNICENTRO, Campus CEDETEG. Selected by eligibility both were diagnosed with spinal muscular atrophy. The physiotherapy stages evaluation was carried out, which consist of anamnesis, functional examination, physical examination and respiratory evaluation. Patient 1, was diagnosed with EBF type IIIb at 16 years old, with reports of falls and weakness mainly in lower limbs, in the evaluation positive Gowers sign, anserine gait, hypotonic, MMSS areflexia and lower limb hyporeflexia, breathing pattern apical were found. Patient 2 was diagnosed with EBF type IIIa at 1 year of age, currently using a wheelchair for locomotion, on physical examination he had scoliosis with right convexity, deformities in the costal grid, decreased muscle strength in the upper limbs and lower limbs, mixed respiratory pattern. From the physical therapy evaluation performed on these patients, it could be noted that the weakness of the respiratory muscles is directly related to the clinical sign presented by both. Keywords: Physiotherapy Specialty. Neuromuscular Diseases. Spinal Muscular Atrophy. ResumoA atrofia muscular espinhal (AME) é uma doença neuromuscular autossômica recessiva com herança genética. A AME é classificada em: tipo I – pacientes apresentam sintomas até 6 meses de idade; tipo II – após os 6 meses de idade inicia-se os sintomas; tipo III – inicia-se após 18 meses de idade. O objetivo desse trabalho foi caracterizar clinicamente dois irmãos com diagnóstico de AME. É um estudo de casos clínicos de dois indivíduos, do gênero masculino, atendidos na Clínica Escola de Fisioterapia, da Universidade Estadual do Centro Oeste do Paraná – UNICENTRO, Campus CEDETEG. Selecionados por elegibilidade ambos diagnosticados com atrofia muscular espinhal. Foram realizadas as etapas da avaliação fisioterapêutica que consistem em anamnese, exame funcional, exame físico e avaliação respiratória. O paciente 1, foi diagnosticado com AME tipo IIIb aos 16 anos, com relatos de quedas e fraqueza principalmente em MMII, na avaliação constatou-se, sinal de Gowers positivo, marcha anserina, hipotônico, arreflexia de MMSS e hiporeflexia de MMII, padrão respiratório apical. O paciente 2 recebeu o diagnóstico de AME tipo IIIa com 01 ano de idade, atualmente utiliza cadeira de rodas para locomoção, no exame físico apresenta escoliose com convexidade a direita, deformidades no gradil costal, força muscular diminuída em MMSS e MMII, padrão respiratório misto. A partir da avaliação fisioterapêutica realizada nesses pacientes, pode-se notar que a fraqueza dos músculos respiratórios está diretamente relacionada com o quadro clinico apresentado por ambos. Palavras-chave: Fisioterapia. Doenças Neuromusculares. Atrofia Muscular Espinhal.

scholarly journals Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)

2018 ◽  
Vol 9 (3) ◽  
pp. 225-230
Author(s):  
Krishna Santoshi M ◽  
Krishnaiah N
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Treatment Modalities ◽  
Smn1 Gene ◽  
Hands And Feet ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in autosomal recessive pattern due to absence of SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, SMA can be considered as a type of janma jaata Vata vikara as it has been mentioned that: “Tatra va gati gandhanayoriti vata” that means all the movements of the body are controlled by vata. In Vata vyadhi Lakshanas, few symptoms like Anganam sosha (Atrophy or emaciation of limbs), Sankocha (Contraction), Kanja, Pangulya, Kubjatva (Lameness of hands and feet, hunch-back and shortness), are considered, few of which are also observed in the Spinal Muscular Atrophy. A 2yrs female patient was admitted in our I.P.D who was a known case of SMA II presented with complaints of inability in sitting for longer time without support, unable to stand and walk even with support. Through Ayurvedic principles we have treated adopting various vata hara treatment modalities & also with few palliative treatments as per the need in view of enhancing the quality living.  

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