Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Catherine Yang
 + 495 word(s) 495 2020-12-15 07:14:45

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. Actin-accumulation Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4446 (accessed on 26 April 2024).
Yang C. Actin-accumulation Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4446. Accessed April 26, 2024.
Yang, Catherine. "Actin-accumulation Myopathy" Encyclopedia, https://encyclopedia.pub/entry/4446 (accessed April 26, 2024).
Yang, C. (2020, December 23). Actin-accumulation Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/4446
Yang, Catherine. "Actin-accumulation Myopathy." Encyclopedia. Web. 23 December, 2020.
Actin-accumulation Myopathy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy

Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.

genetic conditions

1. Introduction

The severe muscle weakness that occurs in actin-accumulation myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking.

The name actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.

2. Frequency

Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.

3. Causes

Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha (α)-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract.

ACTA1 gene mutations that cause actin-accumulation myopathy may affect the way the skeletal α-actin protein binds to ATP. ATP is a molecule that supplies energy for cells' activities, and is important in the formation of thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation and impair muscle contraction, leading to muscle weakness and the other signs and symptoms of actin-accumulation myopathy.

In some people with actin-accumulation myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.

3.1. The gene associated with Actin-accumulation myopathy

  • ACTA1

4. Inheritance

Actin-accumulation myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new (de novo) mutations in the gene and occur in people with no history of the disorder in their family.

5. Other Names for This Condition

  • actin filament aggregate myopathy

  • actin myopathy

  • congenital myopathy with excess of thin filaments

  • nemaline myopathy 3

References

  1. Bornemann A, Petersen MB, Schmalbruch H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996 Jul;92(1):104-8.
  2. Feng JJ, Marston S. Genotype-phenotype correlations in ACTA1 mutations thatcause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. doi:10.1016/j.nmd.2008.09.005.
  3. Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I. Congenital myopathy withexcess of thin myofilaments. Neuromuscul Disord. 1997 May;7(3):160-8.
  4. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S,Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC,Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal musclealpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267-77. doi:10.1002/humu.21059.
  5. Nowak KJ, Ravenscroft G, Laing NG. Skeletal muscle α-actin diseases(actinopathies): pathology and mechanisms. Acta Neuropathol. 2013Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z.
  6. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, MüllerCR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ,Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.Nat Genet. 1999 Oct;23(2):208-12.
  7. Ochala J. Thin filament proteins mutations associated with skeletalmyopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9.
  8. Schröder JM, Durling H, Laing N. Actin myopathy with nemaline bodies,intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). ActaNeuropathol. 2004 Sep;108(3):250-6.
  9. Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N,Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal musclealpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8):519-31. Review.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Catherine Yang
View Times: 771
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback