In nemaline myopathy, all pathogenic KBTBD13 mutations identified to date in human patients were found in the Kelch repeats[21]. Similarly, mutations in Kelch repeats of both KLHL40 or KLHL41 also result in nemaline myopathy[14, 22].
(jatko teksti: Kelch proteins in skeletal muscle diseases... kts linkistä)
Nemaliinimyopatiasta haku: vastauksia tulee yli 1000 heti. Sitä esiintyy 1:50 000 syntyneissä.
Uutta tietoa aivan pandemian aikajaksolta: https://pubmed.ncbi.nlm.nih.gov/34561123/
Tässä mainitaan suomalaisia ja ruotsalaisia tiedemiehiä. otan yhden abstraktin esiin:
2021: Review
. 2021 Oct;31(10):955-967.
doi: 10.1016/j.nmd.2021.07.012.
Epub 2021 Jul 24. Recent advances in nemaline myopathy
Affiliations
Abstract
The nemaline myopathies constitute a large proportion of the
congenital or structural myopathies. Common to all patients is muscle
weakness and the presence in the muscle biopsy of nemaline rods. The
causative genes are at least twelve, encoding structural or regulatory
proteins of the thin filament, and the clinical picture as well as the
histological appearance on muscle biopsy vary widely. Here, we suggest a
renewed clinical classification to replace the original one, summarise
what is known about the pathogenesis from mutations in each causative
gene to the forms of nemaline myopathy described to date, and provide
perspectives on pathogenetic mechanisms possibly open to therapeutic
modalities. Keywords:
Clinical; Congenital myopathy; Functional; Genetics; Nemaline (rod) myopathy; Pathogenesis.
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
2016 Yksitoista geeniä osoitettu nemaliinimyopatiassa
https://pubmed.ncbi.nlm.nih.gov/27659899/
Introduction: Nemaline
myopathy (NM) is a congenital muscle disorder that associates
hypotonia, muscle weakness and, often, skeletal deformities with the
presence of numerous nemaline bodies (rods) in muscle fibers [1]. NM is
thought to be one of the most common congenital myopathies, with an
estimated frequency of one in 50,000 births [2]. Clinical presentations
range from lethal forms with profound weakness to mild and
non-progressive forms of childhood onset. The defining feature of all
congenital cases of NM is the presence of
fuchsinophilic protein
inclusions. These often have an
elongated thread-like shape resembling a
rod. Consequently, they have been dubbed ‘nemaline’ bodies from the
Greek word ‘
nema’, meaning ‘
thread’. Over the last 6 years,
the
use of exome sequencing has increased the number of genes associated
with NM. To date, 11 genes have been implicated:
ACTA1, MIM #
161800;
NEB, MIM #
256030 ;
TPM2, MIM #
609285 ;
TPM3, MIM #
609284 ;
TNNT1, MIM #
605355 ;
KBTBD13, MIM #
609273 ;
CFL2, MIM #
610687 ;
KLHL40 MIM #
615340 ;
KLHL41 MIM #
615731 ;
LMOD3 MIM #
616112 ; and
MYO18B MIM #
607295).
These encode the proteins of skeletal muscle thin filaments, Kelch
domain-associated proteins and an unconventional myosin [3]. The present
review examines the clinical and histopathological features of these
diseases and also describes the newly identified forms of NM.
KOMMENTTI:
Uusimpia tietoa nemaliinimyopatiaeeneistä lienee tämä viimeinen
vakava variantti joka liittyy on KFS4 oireyhtymään. (KFS4; 616549) Brunet et al. (2020)
identified a homozygous c.6433C-T transition (c.6433C-T, NM_032608.5)
in the MYO18B gene, resulting in an arg2145-to-ter (R2145X)
substitution. The mutation, which was found by trio exome sequencing,
was present in heterozygous state in the parents.
Geeni MYO18B: Tällä viimeksi mainitulla KFS4 oireyhtymään liittyvällä nemaliinimyopatiageenillä MYO18B on
assosiaatio keuhkosyöpäänkin:
LÄHDE: Nishioka, M., Kohno,
T. et al.
MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer.
Proc. Nat. Acad. Sci. 99: 12269-12274, 2002.
[PubMed:
12209013,
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Lienee menossa myös uutta luokittelua nemaliinimyopatiageeneihin, mutta siitä en saanut nyt auki linkkiä.
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