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Neurodegeneration
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
TRUE – Neuronal eosinophilic inclusion bodies can be found in the SNc in Parkinson’s patients. They can be elongated and branching within cellular processes (Lewy neuritis) or spherical within perikarya of neurones (Lewy bodies). They contain the misfolded protein alpha-synuclein. These inclusion bodies can be differentiated from other inclusion bodies – for instance, those found in synucleinopathies such as multiple system atrophy.1
Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Adult neuronal ceroid lipofuscinoses (ANCL) (Kufs' disease) is a progressive degenerative disease. It is usually an autosomal recessive disorder, but it may be dominant in some families. Inclusion bodies develop within the cytoplasm of white blood cells and neurons and can be seen with electron microscopy (EM).
Inherited Differences in Alpha1-Antitrypsin
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
There are also other unidentified substances present in the inclusion granules in addition to alpha1-antitrypsin which could form complexes or otherwise interact with Ζ alpha1-antitrypsin and result in peculiar changes during storage. The inclusion bodies require further study. They may hold an important clue to our understanding of the function of alpha rantitrypsin in the liver, and provide insight into the normal process of secretion of glycoproteins.
Bilateral Vision Loss and Visual Hallucinations in Subacute Sclerosing Panencephalitis: A Case Report
Published in Neuro-Ophthalmology, 2023
Ravi Uniyal, Ravindra Kumar Garg, Hardeep Singh Malhotra, Neeraj Kumar, Shweta Pandey, Imran Rizvi, Amita Jain, Nidhi Tejan, Rupesh Singh kirar
SSPE is caused by the persistent mutant measles virus infection of the brain. It presents with cognitive decline, myoclonus, and focal and generalised seizures in children. However, atypical presentations are also often observed.8–15 SSPE typically manifests many years after acute measles infection. The virus gets entry into the brain during the acute exanthematous phase.8 In the brain, many structural and genetic changes happen in the virus that cause characteristic uracil‐to‐cytosine transitions in the M gene. This mutant virus continues to replicate in the brain parenchyma. CD4 and CD8 T-cells mediated inflammatory response ensues against the virus; however, it is not able to effectively kill the virus. Some researchers hypothesise that there is cross-reactivity between the virus and myelin antigens, which causes demyelination secondary to the autoimmune phenomenon.8 Histopathologically, SSPE is characterised by panencephalitis with parenchymal and leptomeningeal perivascular cellular infiltration. Inclusion bodies are characteristically seen in neurons and oligodendrocytes. Death generally occurs within 1–3 years. In acute fulminant form of SSPE, death occur within 6 months.16
Production of active human FGF21 using tobacco mosaic virus-based transient expression system
Published in Growth Factors, 2021
Jieying Fan, Yunpeng Wang, Shuang Huang, Shaochen Xing, Zhengyi Wei
Although FGF21 exists widely among vertebrates, its expression level is rather low, and cannot be extracted for mass production to meet the increasing demand in clinical application. Therefore, it remains the major challenge for the efficient large-scale production of FGF21. The inclusion bodies have been the main problem in E. coli system that the bioactivity of an expressed target protein is almost totally lost after denaturation and renaturation. The fusion with SUMO (Small ubiquitin-related modifier) and FGF21 by PCR was able to promote the soluble expression of the target protein (Wang et al. 2010; Yu et al. 2014). For the concern of large-scale production, fermentation in 30-L to 200-L scale was used to establish a time-saving and cost-effective strategy for industrial production of rhFGF21 (Ye et al. 2016; Hui et al. 2019; Ye et al. 2019). The successful expression of FGF21 in yeast, tomato, Arabidopsis, carrot, and rice has been achieved gradually (Song et al. 2016; Wang et al. 2016).
Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2
Published in Hemoglobin, 2019
Manit Nuinoon, Orapan Thipthara, Suthat Fucharoen
The shift of the reading frame modified the C-terminal sequence and added 10 more residues to the β-globin chain which elongated to 156 amino acids as follows: [(121)-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(156)], as shown in Figure 2. This β-globin chain variant was named Hb Mahasarakham after the patient’s place of origin. To identify known genetic modifiers in β-thal disease, the α-thalassemia genotype, α-thal-1 alleles [– –SEA (NG_000006.1: g.26264_45564del19301) and – –THAI (NG_000006.1: g.10664_44164del33501)] and α-thal-2 alleles [–α3.7 (rightward) (NG_000006.1: g.34164_37967del3804) and –α4.2 (leftward) deletions] were characterized by multiplex gap-PCR, as previously described [12]. The XmnI polymorphisms rs7482144 and rs766432 BCL11A were genotyped by PCR-RFLP [13,14]. The multiplex gap-PCR revealed a heterozygous carrier of the α-thal-2 (–α3.7/αα) and single nucleotide polymorphism (SNP) genotypes data as follows: rs766432 (AA) and rs7482144 (CT). To support the trace of Hb variant located in the C-window (HPLC chromatogram) for this proband, supravital staining (brilliant cresyl blue) was used to visualize intracellular Hb variant precipitates as shown in Figure 3. A very low number of inclusion bodies (<1: 1000 RBC) was seen in this case. However, inclusion bodies could be attributed to Hb E alone.