Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Biochem Soc Trans. 2024 Feb 23:BST20231116. doi: 10.1042/BST20231116. Online ahead of print.ABSTRACTThe underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of SMN protein loss and the resulting pathological alterations are not fully understood. Given the crucial roles of the SMN protein in snRNP biogenesis and its interactions with ribosomes and translation-related proteins and mRNAs, a decrease in SMN levels below a specific threshold in SMA is expected to affect translational control of gene expression....
Source: Biochemical Society Transactions - February 23, 2024 Category: Biochemistry Authors: Gaurav Sharma Martina Paganin Fabio Lauria Elena Perenthaler Gabriella Viero Source Type: research
Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Biochem Soc Trans. 2024 Feb 23:BST20231116. doi: 10.1042/BST20231116. Online ahead of print.ABSTRACTThe underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of SMN protein loss and the resulting pathological alterations are not fully understood. Given the crucial roles of the SMN protein in snRNP biogenesis and its interactions with ribosomes and translation-related proteins and mRNAs, a decrease in SMN levels below a specific threshold in SMA is expected to affect translational control of gene expression....
Source: Biochemical Society Transactions - February 23, 2024 Category: Biochemistry Authors: Gaurav Sharma Martina Paganin Fabio Lauria Elena Perenthaler Gabriella Viero Source Type: research
Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Biochem Soc Trans. 2024 Feb 23:BST20231116. doi: 10.1042/BST20231116. Online ahead of print.ABSTRACTThe underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of SMN protein loss and the resulting pathological alterations are not fully understood. Given the crucial roles of the SMN protein in snRNP biogenesis and its interactions with ribosomes and translation-related proteins and mRNAs, a decrease in SMN levels below a specific threshold in SMA is expected to affect translational control of gene expression....
Source: Biochemical Society Transactions - February 23, 2024 Category: Biochemistry Authors: Gaurav Sharma Martina Paganin Fabio Lauria Elena Perenthaler Gabriella Viero Source Type: research
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Biochem Soc Trans. 2024 Feb 28;52(1):465-479. doi: 10.1042/BST20231116.ABSTRACTThe underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of SMN protein loss and the resulting pathological alterations are not fully understood. Given the crucial roles of the SMN protein in snRNP biogenesis and its interactions with ribosomes and translation-related proteins and mRNAs, a decrease in SMN levels below a specific threshold in SMA is expected to affect translational control of gene expression. This review covers b...
Source: Biochemical Society Transactions - February 23, 2024 Category: Biochemistry Authors: Gaurav Sharma Martina Paganin Fabio Lauria Elena Perenthaler Gabriella Viero Source Type: research
Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_337_23. Online ahead of print.ABSTRACTA 48-year-old male presented with proximal muscle weakness of the shoulder with difficulty in lifting objects above the shoulder in July 2012. Electromyogram was suggestive of chronic motor axonal loss with a myogenic pattern, and a deltoid muscle biopsy revealed groups of atrophic muscle fibers and hypertrophic fibers with pan fascicular atrophy suggestive of adult-onset spinal muscular atrophy. He was managed conservatively and developed bilateral pedal edema in August 2022. He had nephrotic range proteinuria, and renal bi...
Source: Indian Journal of Pathology and Microbiology - February 23, 2024 Category: Pathology Authors: Gerry G Mathew Jayaprakash Varadharajan Sreedhar Sailapathy R Kalpana Source Type: research
NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy
This study was directed to elucidate the molecular assessment of NAIP and SMN genomic alterations as a useful tool in predicting the severity of SMA among patients. This study included 65 SMA pediatric patients (30 type I and 35 type II) and 65 healthy controls. RFLP-PCR was employed to determine the genetic polymorphisms of the SMN1, SMN2, and NAIP genes. In addition, qRT-PCR was used to identify the expression of the SMN1 and SMN2 genes, and serum levels of creatine kinase were measured using a colorimetric method. DNA sequencing was performed on some samples to detect any single nucleotide polymorphisms in SMN1, SMN2, a...
Source: Biochemical Genetics - February 22, 2024 Category: Genetics & Stem Cells Authors: Abdel Nasser H Abd El Mutaleb Fawziya A R Ibrahim Fayed A K Megahed Ahmed Atta Bahy A Ali Tarek E I Omar Mona M Rashad Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy
This study was directed to elucidate the molecular assessment of NAIP and SMN genomic alterations as a useful tool in predicting the severity of SMA among patients. This study included 65 SMA pediatric patients (30 type I and 35 type II) and 65 healthy controls. RFLP-PCR was employed to determine the genetic polymorphisms of the SMN1, SMN2, and NAIP genes. In addition, qRT-PCR was used to identify the expression of the SMN1 and SMN2 genes, and serum levels of creatine kinase were measured using a colorimetric method. DNA sequencing was performed on some samples to detect any single nucleotide polymorphisms in SMN1, SMN2, a...
Source: Biochemical Genetics - February 22, 2024 Category: Genetics & Stem Cells Authors: Abdel Nasser H Abd El Mutaleb Fawziya A R Ibrahim Fayed A K Megahed Ahmed Atta Bahy A Ali Tarek E I Omar Mona M Rashad Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
