Page last updated: 2024-11-06

lathosterol

Description Research Excerpts Clinical Trials Roles Classes Pathways Study Profile Bioassays Related Drugs Related Conditions Protein Interactions Research Growth Market Indicators

Description

Lathosterol is a cholesterol precursor that accumulates in individuals with Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder characterized by multiple congenital malformations. It is synthesized in the liver from 7-dehydrocholesterol, a key intermediate in cholesterol biosynthesis. Due to a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7), SLOS patients cannot efficiently convert 7-dehydrocholesterol to cholesterol, resulting in elevated levels of lathosterol. Studies have shown that lathosterol can disrupt cellular signaling pathways, leading to the developmental abnormalities observed in SLOS. Its accumulation is associated with various neurological and developmental issues, including intellectual disability, craniofacial dysmorphology, and polydactyly. Research on lathosterol focuses on understanding its role in SLOS pathogenesis, exploring potential therapeutic interventions, and developing diagnostic tools for early detection. Lathosterol levels are often used as a biomarker to monitor disease severity and treatment efficacy in SLOS patients. Furthermore, research on lathosterol has shed light on the intricate mechanisms of cholesterol biosynthesis and its importance in human health.'

lathosterol: RN given refers to (3beta,5alpha)-isomer [Medical Subject Headings (MeSH), National Library of Medicine, extracted Dec-2023]

5alpha-cholest-7-en-3beta-ol : A cholestanoid that is (5alpha)-cholest-7-ene substituted by a beta-hydroxy group at position 3. [Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Cross-References

ID SourceID
PubMed CID65728
CHEMBL ID3138639
CHEBI ID17168
SCHEMBL ID187737
MeSH IDM0041745

Synonyms (53)

Synonym
CHEBI:17168 ,
gamma-cholesterol
cholest-7-en-3-ol, (3.beta.,5.alpha.)-
7-cholesterol
7-cholesten-3-beta-ol
(3-beta,5-alpha)-cholest-7-en-3-ol
cholesterin [german]
5-alpha-cholest-7-en-3-beta-ol
delta(sup 7)-cholestenol
cholest-7-en-3-ol, (3-beta,5-alpha)-
C01189
5alpha-cholest-7-en-3beta-ol
lathosterol
80-99-9
LMST01010089
cholest-7-en-3beta-ol
cholesta-7-enol
cholesta-7-en-3beta-ol
delta7-cholesten-3-beta-ol
alpha-cholest-7-en-3beta-ol
cholest-7-en-3-ol
(3s,5s,9r,10s,13r,14r,17r)-10,13-dimethyl-17-[(2r)-6-methylheptan-2-yl]-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1h-cyclopenta[a]phenanthren-3-ol
cholest-7-en-3-ol, (3b,5a)-
SCHEMBL187737
CHEMBL3138639
AKOS024307570
7,(5-alpha)-cholesten-3-beta-ol
IZVFFXVYBHFIHY-SKCNUYALSA-N
3.beta.-hydroxy-5.alpha.-cholest-7-ene
7-cholesten-3-.beta.-ol
.delta.7-cholestenol
gamma-cholestenol
cholesterol,nf grade
cholesterol pharma
cholesterol extra pure
(3beta,alpha)-cholest-7-en-3-ol
cholesterol gr
delta7-cholesten-3beta-ol
5-a-cholest-7-en-3-beta-ol
delta7-cholestenol
3b-hydroxy-5-cholestene
cholest-7-en-ol
delta(7)-cholestenol
3beta-hydroxy-5alpha-cholest-7-ene
(3beta)-cholest-7-en-3-ol
(3beta,5alpha)-cholest-7-en-3-ol
cholesterol - synthetic
(7)-cholestenol
A936558
(3s,5s,9r,10s,13r,14r,17r)-10,13-dimethyl-17-((r)-6-methylheptan-2-yl)-2,3,4,5,6,9,10,11,12,13,14,15,16,17-tetradecahydro-1h-cyclopenta[a]phenanthren-3-ol
Q3218465
DTXSID501015889
(1r,2s,5s,7s,11r,14r,15r)-2,15-dimethyl-14-[(2r)-6-methylheptan-2-yl]tetracyclo[8.7.0.02,7.011,15]heptadec-9-en-5-ol

Research Excerpts

Overview

Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase.

ExcerptReferenceRelevance
"Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase. "( Clinical phenotype of lathosterolosis.
Andria, G; Balli, F; Cervasio, M; Corso, G; D'Armiento, M; Ferrari, P; Hall, CM; Parenti, G; Parisi, I; Rivasi, F; Rossi, M; Vecchione, R, 2007
)
2.1

Toxicity

ExcerptReferenceRelevance
" Plant stanol ester spread consumption appeared safe in the clinical setting, except for potential lowering of infants' serum beta-carotene concentration, and was reflected in the markers of cholesterol synthesis and absorption in mothers' serum, encouraging further studies in larger settings."( Plant stanol ester spreads as components of a balanced diet for pregnant and breast-feeding women: evaluation of clinical safety.
Gylling, H; Isolauri, E; Kaipiainen, L; Laitinen, K; Miettinen, TA, 2009
)
0.35

Pharmacokinetics

ExcerptReferenceRelevance
"012) and the mean peak concentration in plasma was 231% higher (174."( Impact of the SLCO1B1 polymorphism on the pharmacokinetics and lipid-lowering efficacy of multiple-dose pravastatin.
Arnold, KA; Eichelbaum, M; Hofmann, U; Igel, M; Kivistö, KT; Lütjohann, D; Niemi, M; Schwab, M; von Bergmann, K, 2006
)
0.33

Bioavailability

ExcerptReferenceRelevance
" Studying the rate of absorption and synthesis has come only recently into the foreground of interest."( [Change in the cholesterol metabolism associated with the combined inhibition of synthesis and absorption].
Márk, L; Paragh, G, 2007
)
0.34

Dosage Studied

ExcerptRelevanceReference
" A dose-response study with simvastatin, a specific inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, was conducted in four treatment groups of FHC animals, exhibiting TC > or = 250 mg/dL."( Effects of simvastatin on plasma lipids and apolipoproteins in familial hypercholesterolemic swine.
Hasler-Rapacz, J; Kempen, HJ; Kudchodkar, BJ; Lacko, A; Princen, HM; Rapacz, J, 1996
)
0.29
" Dalcetrapib did not change plasma (3)H-cholesterol level but increased (3)H-cholesterol in plasma HDL vs non-HDL, after oral dosing of labeled cholesterol."( Effect of dalcetrapib, a CETP modulator, on non-cholesterol sterol markers of cholesterol homeostasis in healthy subjects.
Blum, D; Chaput, E; Derks, M; Kallend, D; Niesor, EJ; Staempfli, A, 2011
)
0.37
"Nondaily statin dosing is an alternative for patients unable to tolerate daily dosing."( Efficacy and plasma drug concentrations with nondaily dosing of rosuvastatin.
Ban, MR; DeGorter, MK; Goldberg, AS; Hegele, RA; Kim, RB, 2013
)
0.39
" In this cohort, genotypes associated with statin concentration were not differently distributed among dosing groups, implying providers had not yet optimized each patient's risk-benefit ratio."( Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.
Choi, YH; DeGorter, MK; Dresser, GK; Hegele, RA; Iwuchukwu, O; Kim, RB; Myers, K; Schwarz, UI; Suskin, N; Tirona, RG; Wei, WQ; Wilke, RA; Zou, G, 2013
)
0.39
" The dosage of atorvastatin was uptitrated with a treatment goal of lowering low-density lipoprotein cholesterol to below 70 mg/dl in both groups."( Synergistic effect of ezetimibe addition on coronary atheroma regression in patients with prior statin therapy: Subanalysis of PRECISE-IVUS trial.
Fujimoto, K; Hokimoto, S; Ishihara, M; Kaikita, K; Koide, S; Komura, N; Matsui, K; Matsumura, T; Matsuyama, K; Morikami, Y; Nakamura, N; Nakamura, S; Nakao, K; Ogawa, H; Oka, H; Oshima, S; Sakaino, N; Sakamoto, K; Shimomura, H; Sugiyama, S; Sumida, H; Tsujita, K; Tsunoda, R; Yamamoto, N; Yamanaga, K; Yamashita, T, 2016
)
0.43
[information is derived through text-mining from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Roles (2)

RoleDescription
human metaboliteAny mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens).
mouse metaboliteAny mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus).
[role information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Drug Classes (4)

ClassDescription
3beta-sterolA sterol in which the hydroxy group at position 3 has beta- configuration.
cholestanoidAny steroid based on a cholestane skeleton and its derivatives.
C27-steroidA steroid compound with a structure based on a 27-carbon (cholestane) skeleton.
Delta(7)-sterolAny sterol that contains a double bond between positions 7 and 8.
[compound class information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Pathways (42)

PathwayProteinsCompounds
Metabolism14961108
Metabolism of lipids500463
Metabolism of steroids111135
Cholesterol biosynthesis2249
Kandutsch-Russell pathway410
Steroid Biosynthesis2142
Smith-Lemli-Opitz Syndrome (SLOS)2142
CHILD Syndrome2142
Desmosterolosis2142
Chondrodysplasia Punctata II, X-Linked Dominant (CDPX2)2142
Lysosomal Acid Lipase Deficiency (Wolman Disease)2142
Ibandronate Action Pathway2143
Simvastatin Action Pathway2143
Pravastatin Action Pathway2143
Rosuvastatin Action Pathway2143
Alendronate Action Pathway2143
Hypercholesterolemia2142
Lovastatin Action Pathway2143
Zoledronate Action Pathway2143
Cerivastatin Action Pathway2143
Risedronate Action Pathway2143
Pamidronate Action Pathway2143
Fluvastatin Action Pathway2143
Atorvastatin Action Pathway2143
Cholesteryl Ester Storage Disease2142
Hyper-IgD Syndrome2142
Mevalonic Aciduria2142
Wolman Disease2142
Steroids metabolism ( Steroids metabolism )1627
Cholesterol metabolism with Bloch and Kandutsch-Russell pathways039
Kandutsch-Russell Pathway (Cholesterol Biosynthesis)930
cholesterol biosynthesis I428
cholesterol biosynthesis (plants)1417
cholesterol biosynthesis (plants, early side-chain reductase)117
Cholesterol biosynthesis with skeletal dysplasias014
Cholesterol synthesis disorders015
Cholesterol biosynthesis pathway in hepatocytes1137
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)937
cholesterol biosynthesis I944
superpathway of cholesterol biosynthesis2178
Biosynthesis and regulation of nematode bile acids05
Biochemical pathways: part I0466
Sterols biosynthesis pathway015
Cholesterol biosynthesis I118
Cholesterol biosynthesis II (via 24,25-dihydrolanosterol)117

Bioassays (4)

Assay IDTitleYearJournalArticle
AID977599Inhibition of sodium fluorescein uptake in OATP1B1-transfected CHO cells at an equimolar substrate-inhibitor concentration of 10 uM2013Molecular pharmacology, Jun, Volume: 83, Issue:6
Structure-based identification of OATP1B1/3 inhibitors.
AID977602Inhibition of sodium fluorescein uptake in OATP1B3-transfected CHO cells at an equimolar substrate-inhibitor concentration of 10 uM2013Molecular pharmacology, Jun, Volume: 83, Issue:6
Structure-based identification of OATP1B1/3 inhibitors.
AID1502696Induction of sterol accumulation in human HL60 cells at 0.1 uM incubated for 24 hrs by GC-MS analysis2017European journal of medicinal chemistry, Nov-10, Volume: 140New chemotype of selective and potent inhibitors of human delta 24-dehydrocholesterol reductase.
AID1159550Human Phosphogluconate dehydrogenase (6PGD) Inhibitor Screening2015Nature cell biology, Nov, Volume: 17, Issue:11
6-Phosphogluconate dehydrogenase links oxidative PPP, lipogenesis and tumour growth by inhibiting LKB1-AMPK signalling.
[information is prepared from bioassay data collected from National Library of Medicine (NLM), extracted Dec-2023]

Research

Studies (300)

TimeframeStudies, This Drug (%)All Drugs %
pre-199025 (8.33)18.7374
1990's71 (23.67)18.2507
2000's99 (33.00)29.6817
2010's96 (32.00)24.3611
2020's9 (3.00)2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Market Indicators

Research Demand Index: 31.28

According to the monthly volume, diversity, and competition of internet searches for this compound, as well the volume and growth of publications, there is estimated to be moderate demand-to-supply ratio for research on this compound.

MetricThis Compound (vs All)
Research Demand Index31.28 (24.57)
Research Supply Index5.97 (2.92)
Research Growth Index4.83 (4.65)
Search Engine Demand Index44.85 (26.88)
Search Engine Supply Index2.00 (0.95)

This Compound (31.28)

All Compounds (24.57)

Study Types

Publication TypeThis drug (%)All Drugs (%)
Trials79 (25.40%)5.53%
Reviews7 (2.25%)6.00%
Case Studies7 (2.25%)4.05%
Observational0 (0.00%)0.25%
Other218 (70.10%)84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]