Nemaliinimyopatialajeissa 1-11 on etiologiassa Kelch-domaaniproteiineja
(jatko teksti: Kelch proteins in skeletal muscle diseases... Nemaliinimyopatiageenistöä
"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]."
Nemaliinimyopatiasta hakuvastauksia tulee runsaasti. Sitä paitsi asia on aktuellia ja uutta luokitusta ollaan tekemässä. Kokoan tietoa tämän hetken luokituksesta aiemmilta vuosilta:
Tässä mainitaan suomalaisia ja ruotsalaisia tiedemiehiä. Otan yhden abstraktin esiin:
TIIVISTELMÄ:
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.
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 exomesequencing 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 6.7.2023 :
Uusimpia tietoa nemaliinimyopatiaeeneistä lienee tämä viimeinen
vakava variantti MYO18B, 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, images, related citations]
[Full Text]
Lienee menossa myös vielä uutta luokittelua nemaliinimyopatiageeneihin, mutta siitä en saanut nyt auki linkkiä.
Oma luetteloni, jonka näistä lähteistä olen koonnut on seuraava: Käytän taudin nimitystä (NEM) nemaliinimyopatia järjestyksenä. Geeni joka aiheuttaa taudin on kaksoispisteen jälkeen. Geenillä saataa olla löytöajoista riippuen usita nimiä luokituksiensa mukaan.
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