Multivalvulid myxosporeans of the genera Kudoa Meglitsch, 1947 and Unicapsula Davis, 1924 (Cnidaria: Myxozoa) are often the cause of unsightly cyst formation or postmortem myoliquefaction in the trunk muscle of commercial marine fish, which reduces the market value of infected individuals. Twenty species (18 Kudoa spp. and two Unicapsula spp.) have been recorded from carangid fish, although the majority of them, excluding polyxenous species, such as K. amamiensis Egusa et Nakajima, 1980, K. iwatai Egusa et Shiomitsu, 1983, K. nova Naidenova, 1975, K. quadratum (Thélohan, 1895) and K. yasunagai (Hsieh et Chen, 1984), are limited to a single or a few fish species. We report the occurrence of macroscopic cysts of Kudoa trachuri Matsukane, Sato, Tanaka, Kamata et Sugita-Konishi, 2011 in the trunk muscle of four new host fish species, i.e., Pseudocaranx dentex (Bloch et Schneider), Decapterus akaadsi Abe, D. muroadsi (Temminck et Schlegel) and Decapterus tabl Berry, fished from the Philippine Sea (Northwest Pacific Ocean), off southwestern of Japan. Myxospore morphology and genetic characteristics of the ribosomal RNA gene (rDNA) of these isolates were consistent with previous records of K. trachuri from Trachurus japonicus (Temminck et Schlegel) from around Japan. In addition, a new species of Kudoa that forms long filamentous pseudocysts in trunk myofibres was found in four of the six D. tabl collected in this study. We describe Kudoa longichorda sp. n. for this new isolate, based on its morphology of subquadrate myxospores with four shell valves and polar capsules and with small dimensions (length 4.3-5.5 μm, width 6.0-6.8 μm, thickness 4.8-6.3 μm, polar capsule length 2.3-3.1 μm, polar capsule width 1.1-1.7 μm), as well as 18S and 28S rDNA sequences distinct from those of known species.

• MeSH
• cysty * MeSH
• fylogeneze MeSH
• kosterní svaly MeSH
• Myxozoa * genetika   MeSH
• nemoci ryb * epidemiologie   MeSH
• ovoce MeSH
• parazitární nemoci u zvířat * epidemiologie   MeSH
• ribozomální DNA genetika   MeSH
• RNA ribozomální 18S genetika   MeSH
• RNA ribozomální 28S genetika   MeSH
• sekvenční analýza DNA MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Pelizaeus-Merzbacher disease is a severe X-linked disorder of central myelination caused by mutations affecting the proteolipid protein gene. We describe 3 new PLP1 splicing mutations, their effect on splicing and associated phenotypes. Mutation c.453_453+6del7insA affects the exon 3B donor splice site and disrupts the PLP1-transcript without affecting the DM20, was found in a patient with severe Pelizaeus-Merzbacher disease and in his female cousin with early-onset spastic paraparesis. Mutation c.191+1G>A causes exon 2 skipping with a frame shift, is expected to result in a functionally null allele, and was found in a patient with mild Pelizaeus-Merzbacher disease and in his aunt with late-onset spastic paraparesis. Mutation c.696+1G>A utilizes a cryptic splice site in exon 5, causes partial exon 5 skipping and in-frame deletion, and was found in an isolated patient with a severe classical Pelizaeus-Merzbacher. PLP1 splice-site mutations express a variety of disease phenotypes mediated by different molecular pathogenic mechanisms.

• MeSH
• dítě MeSH
• fenotyp MeSH
• lidé středního věku MeSH
• lidé MeSH
• místa sestřihu RNA genetika   MeSH
• mutace genetika   MeSH
• mutační analýza DNA MeSH
• myelinový proteolipidový protein genetika   MeSH
• nervové vedení genetika   MeSH
• Pelizaeusova-Merzbacherova nemoc * genetika   patologie   patofyziologie   MeSH
• pitva MeSH
• předškolní dítě MeSH
• zdraví rodiny MeSH
• Check Tag
• dítě MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH