Disease relevance of SACS

• Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey [1].
• OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia [2].
• Thus, we should analyze the SACS gene even in cases of early-onset cerebellar ataxia without spasticity [3].
• To clarify this, using human DCs derived from peripheral blood cells, we measured the protein levels of OSM in the supernatants of DC cultures by ELISA and examined the expression of OSM mRNA by RT-PCR after stimulation with lipopolysaccharide (LPS) or fixed Staphylococcus aureus (SACS) [4].
• Increased fetal nuchal translucency was defined as an area of translucency at least 3 mm in width, and cystic hygromas were defined as septated, fluid-filled sacs in the nuchal region [5].

High impact information on SACS

• SACS is expressed in a variety of tissues, including the central nervous system [6].
• We previously mapped the gene responsible for ARSACS to chromosome 13q11 and identified two ancestral haplotypes [6].
• Light microscopy showed multiple vacuoles filled with acid-phosphatase-positive material; on ultrastructural examination there was abnormal accumulation of glycogen in membrane-bound sacs (secondary lysosomes), some of which also contained dark membranous of homogeneous material [7].
• A novel domain - HEPN (higher eukarytoes and prokaryotes nucleotide-binding domain) - found in several bacterial species is also present in the human protein, sacsin, a chaperonin implicated in an early-onset neurodegenerative disease [8].
• Vessel formation appears normal until hemorrhage occurs in yolk sacs and embryos [9].

Chemical compound and disease context of SACS

• This study investigated the effects of liposomal encapsulation, empty liposome pretreatment, or free lipid pretreatment on the uptake and transport of epirubicin in the human colon adenocarcinoma cell line Caco-2 and in everted gut sacs of rat jejunum and ileum [10].
• The effects of sodium deoxycholate (Deo-Na), a bile salt, and sodium caprate (Cap-Na), a fatty acid, on the transport of epirubicin were investigated in both the human colon adenocarcinoma (Caco-2) cell line and the everted gut sacs of the rat jejunum and ileum [11].
• We studied intestinal absorption of vitamin E in rats with experimental renal failure (RF) and in sham-operated normal and pair-fed controls using in vivo perfusion and in vitro everted sacs [12].
• The skeleton and endolymphatic lime sacs buffered 21% of the total lactate load during anoxia, and 9% after exercise [13].
• We also reviewed pregnancy outcome (number of gestational sacs, babies, preclinical and clinical abortion, ectopic pregnancy and birth sex) in 1744 clomiphene pregnancies from our clinic [14].

Biological context of SACS

• The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation [15].
• They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304 [16].
• BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12) [2].
• The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype [3].
• We identified two SACSmutations in ARSACS families that lead to protein truncation, consistent with haplotype analysis [6].

Anatomical context of SACS

• An adaptor for continuous stimulation of the facial nerve (SACS) to be used with the WR-S8 Monitor/Stimulator during otologic surgery has been developed [17].
• Chloroplasts contain a system of membrane sacs, the thylakoids, some of which are stacked to form grana (singular, granum), whereas others float freely in the stroma [18].
• Sacs of everted hamster jejunum were incubated with fatty acid and monoglyceride in bile salt solutions either with or without added salts of calcium and magnesium [19].
• In order to investigate the cytoprotective action of 16-16-dimethyl-prostaglandin E2 (16-16D), we studied its effect on sacs of isolated amphibian gastric mucosa known to ulcerate with high frequency in the absence of nutrient HCO3-. The actions of 16-16D, 2.85 X 10(-6) M, were also studied in an in vitro chamber [20].
• Two-thirds of TEL-deficient yolk sacs at E9.5 lack vitelline vessels, yet possess capillaries, indicative of normal vasculogenesis [21].

Associations of SACS with chemical compounds

• The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) [22].
• Closed sacs of gastric mucosa, containing exogenous HCl and pepsin, readily ulcerated when incubated in Ringer solution devoid of HCO3-, but were effectively protected against ulceration when ambient HCO3- was present [23].
• A similar effect was observed in sacs preincubated with guar gum (15 minutes) and exposed to glucose in a subsequent guar-free incubation [24].
• The effect of two gel-forming polysaccharide gums, guar gum and Na-carboxymethyl-cellulose (CMC), on glucose transport in vitro was investigated using everted sacs of rat jejunum [24].
• Everted sacs of rat jejunum preloaded with 14C-galactose were exposed to quercetin glycosides isolated from onions [25].

Other interactions of SACS

• Two genes have been identified: paraplegin and sacsin [26].

Analytical, diagnostic and therapeutic context of SACS

• At present, the superficial adipocutaneous system (SACS) face lift is almost always associated with a lipostructure performed in the same operative session [27].
• An adaptor has been developed for continuous stimulation (SACS) to be used with the new WR-S8, Monitor/Stimulation The SACS allows the microsurgical instruments and air drills to be electrified and to function as probe tips during surgical dissection [28].
• The primary challenge was that SACS increased clinic visit time [29].
• SACS can enhance clinician behavior to improve patient asthma self-management, but more studies are indicated to mitigate temporal constraints and evaluate impact on clinician and patient communication and behavior as well as clinical outcomes [29].
• Viable zygotes were excised from embryo sacs by minimal enzymatic digestion and microdissection [30].

References