Belt dystrophy 2S

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Classification according to ICD-10
G71.0 Muscular dystrophy
- pelvic or shoulder girdle shape
ICD-10 online (WHO version 2019)

The limb-2S (LGMD2S) is a very rare muscle disease and belongs to the group of limb-girdle muscular dystrophy . Like other girdle dystrophies, the clinical picture is characterized by an increasing muscular dystrophy of the proximal (close to the body) muscles. The disease manifests itself in childhood.

The LGMD2S is by a mutation in TRAPPC11 gene (also C4orf41 , chromosome 4 open reading frame 41 , called) causes and autosomal - recessive inherited. The gene, which is located on chromosome 4 (11q35.1) in humans, codes for a protein known as the trafficking protein particle complex subunit 11 .

LGMD2S was first described in 2013 in 3 blood relatives of a Syrian family. A missense mutation in the TRAPPC11 gene was detected. The same group of authors also described another mutation in the same gene in 5 members of Hutterites that led to myopathy with hyperkinesia , ataxia and mental retardation .

The TRAPPC11 protein is part of a large multiprotein complex, the so-called TRAPP complex , which plays an important role in vesicle transport within cells. It could be proven that the two known mutations (as of September 2013) lead to TRAPPC11 not being able to bind to the TRAPP complex and the structures of the Golgi apparatus being destroyed.

Individual evidence

  1. ↑ Trafficking protein particle complex subunit 11 at UniProt
  2. ↑ a b N. Bögershausen, N. Shahrzad u. a .: Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. In: American Journal of Human Genetics . Volume 93, Number 1, July 2013, pp. 181-190, ISSN  1537-6605 . doi : 10.1016 / j.ajhg.2013.05.028 . PMID 23830518 . PMC 3710757 (free full text).
  3. ↑ PJ Scrivens, B. Noueihed, N. Shahrzad, S. Hul, S. Brunet, M. Sacher: C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. In: Molecular biology of the cell. Volume 22, Number 12, June 2011, pp. 2083-2093, ISSN  1939-4586 . doi : 10.1091 / mbc.E10-11-0873 . PMID 21525244 . PMC 3113772 (free full text).
  4. ↑ M. Sacher, YG Kim et al .: The TRAPP complex: insights into its architecture and function. In: Traffic (Copenhagen, Denmark). Volume 9, Number 12, December 2008, pp. 2032-2042, ISSN  1600-0854 . doi : 10.1111 / j.1600-0854.2008.00833.x . PMID 18801063 . PMC 3417770 (free full text). (Review).

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