Related Experiment Video

Updated: Jul 19, 2026

Exogenous Administration of Microsomes-associated Alpha-synuclein Aggregates to Primary Neurons As a Powerful Cell Model of Fibrils Formation
09:16

Exogenous Administration of Microsomes-associated Alpha-synuclein Aggregates to Primary Neurons As a Powerful Cell Model of Fibrils Formation

Published on: June 26, 2018

Protein aggregate myopathies

Hans H Goebel1, Harald D Müller

  • 1Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany. neuropatho.klinik.uni-mainz.de

Seminars in Pediatric Neurology
|October 10, 2006
PubMed

Insights

Protein aggregate myopathies (PAMs) affect muscle fibers in children and adults, often linked to genetic mutations. Diagnosis requires muscle biopsy and advanced analysis, with no cure currently available.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Protein aggregate myopathies (PAMs) are characterized by abnormal protein aggregation within muscle fibers.
  • These myopathies can manifest in childhood (e.g., selenoproteinopathies, actinopathies, myosinopathies) or adulthood (e.g., myofibrillar myopathies).
  • PAMs can be mutation-related, particularly in childhood forms, or sporadic, predominantly in adults.

Purpose of the Study:

  • To classify and describe protein aggregate myopathies.
  • To outline diagnostic approaches for identifying specific PAM entities.
  • To highlight the current limitations in understanding pathogenesis and treatment.

Main Methods:

  • Classification based on identifying specific mutant proteins, often sarcomeric components.
  • Diagnosis involves muscle biopsy with extensive immunohistochemical and electron microscopic examination.
  • Subsequent molecular analysis of identified proteins is crucial for definitive diagnosis.

Main Results:

  • PAMs are categorized based on the affected proteins, including those in myofibrils, desmin, actin, and myosin.
  • Diagnostic workflow integrates morphological and molecular analyses for precise identification.
  • Genetic counseling is facilitated by accurate diagnosis of individual PAM entities.

Conclusions:

  • Accurate diagnosis of PAMs relies on integrated morphological and molecular investigations.
  • Understanding the pathogenetic mechanisms of PAMs remains incomplete.
  • Currently, causative therapies for protein aggregate myopathies are unavailable.

More Related Videos

Assays for the Degradation of Misfolded Proteins in Cells10:56

Assays for the Degradation of Misfolded Proteins in Cells

Published on: August 28, 2016

Assay Development for High Content Quantification of Sod1 Mutant Protein Aggregate Formation in Living Cells11:12

Assay Development for High Content Quantification of Sod1 Mutant Protein Aggregate Formation in Living Cells

Published on: October 4, 2017

Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
The Proteasome01:13

The Proteasome

Eukaryotic cells can degrade proteins through several pathways. One of the most important among these is the ubiquitin-proteasome pathway. It helps the cell eliminate the misfolded, damaged, or unwarranted cytoplasmic proteins in a highly specific manner.
In this pathway, the target proteins are first tagged with small proteins called ubiquitin. This involves participation of a series of enzymes including— E1 (ubiquitin-activating enzyme), E2 (ubiquitin-conjugating enzyme), and E3 (ubiquitin...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...