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Spinal Cord Disease
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Autosomal dominant forms to be aware of include: BSCL2 (formerly SPG17) on chromosome 11q encoding for seipin protein causes Silver's syndrome (HSP with distal amyotrophy).
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Published in Neurological Research, 2021
Safdar Abbas, Beatrice Brugger, Muhammad Zubair, Sana Gul, Jasmin Blatterer, Julian Wenninger, Khurram Rehman, Benjamin Tatrai, Muzammil Ahmad Khan, Christian Windpassinger
HSP follows different modes of inheritance such as autosomal dominant, autosomal recessive and X-linked, indicating a detailed phenotypical characterization as a critical step prior to molecular analysis [3, 9]. To date, more than 70 chromosomal loci have been linked to HSP [1, 10–12], in which autosomal dominant HSP accounts for about 38% of cases and autosomal recessive accounts for 53% of cases [13]. Physiologically, the HSP proteins have various functions such as (i) axon transport (e.g., KIF1A and KIF5A), (ii) morphologic role in endoplasmic reticulum (e.g., Atlastin, Spastin and reticulon 2), (iii) physiologic role in mitochondria (e.g., chaperonin 60/heat-shock protein 60, paraplegin and mitochondrial ATP6), (iv) synthesis of myelin (e.g., Proteolipid protein and Connexin 47), (v) protein folding and ER-stress response (e.g., NIPA1, K1AA0196 (Strumpellin), and BSCL2 (Seipin), (vi) corticospinal tract and other neuronal development (e.g., cell adhesion molecule and thyroid transporter MCT8), (vii) fatty acid and phospholipid metabolism (e.g., DDHD1, FA2H, NTE, and CYP2U1); and (viii) endosome membrane trafficking and vesicle formation (e.g., AP4B1, KIAA0415, AP4M1, and AP4E) [see 14,for details]. The clinical heterogeneity of HSP greatly reflects the contribution of diverse cellular pathways in disease pathogenesis [5, 8, 15, 16].
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
Published in Current Medical Research and Opinion, 2019
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
Mendelian forms of lipodystrophic syndromes are uncommon and, in several patients, the molecular defect may remain unidentified. Recessive congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy; BSCL) usually arises from pathogenic variants of the AGPAT2 (BSCL1 sub-type) or BSCL2 (BSCL2 sub-type) genes that encode 1-acyl-glycerol-3-phosphate O-acyltransferase 2 and seipin, respectively5,6. Much rarer sub-types involve pathogenic variants of the CAV1 (BSCL3 sub-type) and CAVIN1/PTRF (BSCL4 sub-type) genes1. Conversely, dominant partial familial lipodystrophies, clinical signs of which usually develop around puberty, typically result from molecular defects in LMNA, which encodes lamin A/C, a nuclear protein; or, more rarely, from molecular defects in PPARG, which encodes peroxisome proliferator-activated receptor-γ, an adipogenic transcription factor2.
Dietary S. maltophilia induces supersized lipid droplets by enhancing lipogenesis and ER-LD contacts in C. elegans
Published in Gut Microbes, 2022
Kang Xie, Yangli Liu, Xixia Li, Hong Zhang, Shuyan Zhang, Ho Yi Mak, Pingsheng Liu
To further understand how S. maltophilia-induced LD expansion was instigated by ER remodeling, we examined the localization of SEIP-1 that is highly enriched in an ER subdomain that associates tightly with LDs.54 SEIP-1 is the C. elegans ortholog of seipin that functions at ER-LD contact sites.55–60 To visualize SEIP-1 positive ER subdomain (peri-LD cages), we used two reporter strains that expressed SEIP-1::GFP fusion proteins either ubiquitously (hjSi189) or specifically in the intestine (hjSi3).54