Original Article
Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
N Engl J Med 1994; 330:107-113January 13, 1994
- Abstract
Background
The Smith-Lemli-Opitz syndrome (frequency, 1:20,000 to 1:40,000) is defined by a constellation of severe birth defects affecting most organ systems. Abnormalities frequently include profound mental retardation, severe failure to thrive, and a high infant-mortality rate. The syndrome has heretofore been diagnosed only from its clinical presentation.
Methods
Using capillary-column gas chromatography-mass spectrometry, we measured the sterol composition of plasma, erythrocytes, lens, cultured fibroblasts, and feces from five children with the syndrome (three girls and two boys).
Results
Plasma cholesterol levels were abnormally low (8 to 101 mg per deciliter [0.20 to 2.60 mmol per liter]) in every patient, being well below the 5th percentile for age- and sex-matched controls. Concentrations of the cholesterol precursor 7-dehydrocholesterol (cholest-5,7-dien-3β-ol), which was not detectable in most of our controls, were elevated (11 to 31 mg per deciliter) more than 2000-fold above normal and were similar to the levels of cholesterol in all tissues from all patients. An isomeric dehydrocholesterol with a structure similar to that of 7-dehydrocholesterol was also detected.
Conclusions
The combination of abnormally low plasma cholesterol levels and a high concentration of the cholesterol precursor 7-dehydrocholesterol points to a major block in cholesterol biosynthesis at the step in which the C-7(8) double bond of 7-dehydrocholesterol is reduced, forming cholesterol. The block may be sufficient to deprive an embryo or fetus of cholesterol and prevent normal development, whereas the incorporation of 7-dehydrocholesterol into all membranes may interfere with proper membrane function.
Media in This Article
Figure 1
Patient 2, a 10-Year-Old Girl with Facies Typical of the Smith-Lemli-Opitz Syndrome.Figure 2
Gas Chromatograms of the Trimethylsilyl Ether Derivatives of Plasma Neutral Sterols in Patient 1 and a Control (a Five-Year-Old Boy).Article Activity
- Article
The Smith-Lemli-Opitz syndrome1 is an autosomal recessive disorder characterized by microcephaly, poor growth, easily recognized dysmorphic facies (anteverted nares, ptosis of eyelids, and micrognathia), limb abnormalities (especially syndactyly of the toes, polydactyly, and a high frequency of digital whorl ridges), genital disorders (cryptorchidism and hypospadias in affected boys), endocrine malfunction, cataracts, heart and kidney malformations, and mental retardation1-5. Its prevalence has been estimated to be 1 in 20,000,6 with a probable carrier frequency of 1 to 2 percent,5 and it may be the second most common autosomal recessive disorder in the North American white population, after cystic fibrosis6. The cause of the syndrome has not yet been identified, and there is no laboratory test either to confirm the diagnosis or to detect heterozygous carriers2.
We describe a severe abnormality in cholesterol biosynthesis in five patients with the Smith-Lemli-Opitz syndrome. Extremely low levels of cholesterol (cholest-5-en-3β-ol) were associated with the accumulation of the cholesterol precursor 7-dehydrocholesterol (cholesta-5,7-dien-3β-ol), as well as an isomeric dehydrocholesterol. The marked elevation of 7-dehydrocholesterol places the defect at a known step in the pathway of cholesterol biosynthesis and serves as a biochemical marker for the disease.
Case Reports
At birth, the five patients (all were white) had many of the features and limb abnormalities typical of the Smith-Lemli-Opitz syndrome, including microcephaly, a sloping forehead, prominent epicanthal folds, flat nasal bridge, upturned nares, and micrognathia. All were mentally retarded. The clinical courses of the three girls were similar and were remarkable for the girls' severe failure to thrive, which necessitated placement of a gastrostomy tube to maintain adequate nutrition. All three girls had a normal karyotype (46,XX).
Patient 1
Patient 1, a girl, weighed 3000 g at birth; she was noted to have a congenital cataract of the right eye, low-set posteriorly rotated ears, postaxial polydactyly of both hands and the left foot, and syndactyly of the second and third toes of both feet. Neurologic examination revealed decreased muscle tone and an unusual cry. The cataract was surgically excised when she was eight months old. At one year of age her size and weight were typical of those of an infant two to four months old, and her development was that of a four-month-old.
Patient 2
Patient 2, a girl 10 years of age (Figure 1Figure 1
Patient 2, a 10-Year-Old Girl with Facies Typical of the Smith-Lemli-Opitz Syndrome.), was born after a 37-week gestation and weighed 2900 g. Other defects noted at birth were hypoplastic labia, dislocated hips, and valgus deformities of the feet. Her weight at this writing is at the 5th percentile for her age, her height at the 50th percentile for a five-year-old, and her head circumference at the 50th percentile for a two-year-old. Although she had hypotonia during infancy, she now has hypertonia with flexion contractures of multiple joints. She cannot speak, may injure herself severely, and may become aggressive. Her serum alanine aminotransferase level was slightly elevated (36 U per liter; normal, 10 to 25).Patient 3
Patient 3, a girl three years old, was born at term weighing 3300 g. A small congenital cataract of the right eye, cleft palate, camptodactyly, and valgus foot deformities were noted. When 35 months old, she had the motor skills of an 8-month-old and the cognitive skills of a 10-to-12-month-old. She has severe hypotonia, although her muscle tone has improved somewhat over time. Her serum aspartate aminotransferase level was moderately elevated at 47 U per liter (normal, 10 to 35), and her serum alanine aminotransferase was 50 U per liter.
Patient 4
In Patient 4, a 13-year-old boy, the syndrome was diagnosed at birth on the basis of dysmorphic facial features, valgus foot deformities, and perinatal hypotonia. His karyotype was normal (46,XY); unlike many boys with the disorder1-4 he had normal genitalia. Placement of a gastrostomy tube was not required in spite of early severe failure to thrive. He is profoundly retarded (IQ of 32 on Stanford-Binet testing) but can speak and walk.
Patient 5
Patient 5, a 10-year-old boy, had somewhat dysmorphic facial features and an increased number of large whorls on his fingertips. He is less severely affected than the other four patients, is only moderately retarded, and is communicative and ambulatory.
Patient 3 has consumed a cholesterol-rich diet of ground lamb almost since birth, whereas Patients 4 and 5 eat regular table food. In contrast, Patients 1 and 2 are fed infant formulas that contain plant sterols but little cholesterol.
Methods
Sterol and Bile Acid Analysis
We identified and measured neutral sterols in plasma and erythrocytes obtained from fasting blood samples from the five patients, the parents of Patients 1 and 2, and the mother of Patient 3. Also, for Patient 1 only, we assayed neutral sterols in cultured fibroblasts and in a small section of lens obtained at surgery. The ratio of free to esterified sterols was determined in plasma from Patients 2 and 5. Neutral sterols and bile acids were measured in feces obtained from Patients 1, 2, and 3. All measurements were carried out in duplicate.
Control values for plasma cholesterol in children were obtained from published tables,7 and control (median) values for plasma 7-dehydrocholesterol from measurements in healthy adults described by Axelson8. We also assayed plasma from six unaffected children and erythrocytes9-11 from four unaffected men for the presence of dehydrocholesterols.
As a control procedure, sterols were assayed in cultured fibroblasts from two women and a 14-year-old boy with sitosterolemia9,10 and two healthy men.
Neutral sterols in plasma and tissues and neutral sterols and bile acids in feces were identified and measured by capillary-column gas chromatography and capillary-column gas chromatography-mass spectrometry as described previously9-12. The unesterified plasma sterol fraction was determined by extracting 0.5 ml of plasma and analyzing the sample without alkaline hydrolysis10.
The relative response of the gas-chromatography column and detector was measured by injecting known quantities of 7-dehydrocholesterol and cholesterol. The effect of alkaline hydrolysis and solvent extraction was determined by spiking 0.5 ml of control plasma with 1.0 mg of 7-dehydrocholesterol9-12. No extraneous compounds were detected, and the recovery of 7-dehydrocholesterol was essentially complete.
The identification of 7-dehydrocholesterol and cholesterol was verified by matching the retention times of the trimethylsilyl ether derivatives of the natural compounds extracted from patients' tissues with the retention times of the derivatives of authentic compounds (Aldrich Chemical, Milwaukee). Sterols were injected into a 25-m high-polarity capillary column (polyethylene glycol-Carbowax [CP-Wax 57CB]) and a 25-m low-polarity capillary column (dimethyl polysiloxane [CP-Sil 5CB]) (Chrompack, Raritan, N.J.) installed in gas chromatographs (Model 5890, Hewlett-Packard, Palo Alto, Calif.)9-12. The identities of the sterols were further confirmed by analysis of the mobilities on argentation thin-layer chromatography plates13,14 and the mass spectra10-12 (Hewlett-Packard Model 5988 mass spectrometer) of the natural and authentic compounds.
Tissue Culture
Fibroblasts from Patient 1 and five controls were grown in 75-cm2 flasks containing 10 ml of Dulbecco's minimum essential medium supplemented with 10 percent fetal-calf serum (GIBCO, Grand Island, N.Y.). After the cultures reached confluence (3 × 106 to 4 × 106 cells after about one week), one half to one third of each culture was reseeded in new flasks and regrown. Before assay, cholesterol biosynthesis was stimulated by incubating the cells for 48 hours in delipidated growth medium. Assays were carried out in duplicate.
Results
Plasma, Erythrocyte, and Lens Sterols
The pattern of plasma sterols in the five patients on capillary-column gas chromatography was highly distinctive and very unusual (Figure 2Figure 2
Gas Chromatograms of the Trimethylsilyl Ether Derivatives of Plasma Neutral Sterols in Patient 1 and a Control (a Five-Year-Old Boy).). The patients' cholesterol concentrations were abnormally reduced, to below the 5th percentile, as compared with concentrations in controls (Table 1Table 1
Sterol Levels in Plasma and Erythrocytes from Five Children with the Smith-Lemli-Opitz Syndrome and Controls.), and two or three additional sterols were easily detected (peaks II, III, and IV, Figure 2). The mass spectra of peaks II and IV suggested that they were C27 diunsaturated 3β-hydroxy sterols. We unequivocally identified the most abundant of these compounds (peak IV) as the cholesterol precursor 7-dehydrocholesterol (Figure 3Figure 3
Mass Spectra of the Trimethylsilyl Ether Derivatives of Authentic 7-Dehydrocholesterol (Upper Panel) and 7-Dehydrocholesterol from the Plasma of Patient 1 (Lower Panel).). Plasma levels of 7-dehydrocholesterol in all five patients were higher than 10 mg per deciliter, a concentration at least 2000-fold greater than the median reported in controls (Table 1). Erythrocytes obtained from all the patients (Table 1) also contained high concentrations of 7-dehydrocholesterol, the isomeric dehydrocholesterol II, and sterol III. In contrast, when we analyzed plasma sterols in a group of six young children without the Smith-Lemli-Opitz syndrome, we were not able to detect peaks corresponding to dehydrocholesterols on gas chromatography.The three aberrant sterols were esterified efficiently. In Patients 2 and 5, 87 and 87 percent, respectively, of cholesterol, 68 and 63 percent of 7-dehydrocholesterol, 83 and 83 percent of dehydrocholesterol II, and 69 and 67 percent of sterol III were determined to be sterol esters.
Lens sterols in Patient 1 consisted of cholesterol, 7-dehydrocholesterol, dehydrocholesterol II, and sterol III in the proportion 1.00:1.33:1.33:1.10. Thus, the three unusual sterols accounted for 79 percent of the total.
The fasting cholesterol concentrations of the patients' parents were either normal (180, 188, and 210 mg per deciliter [4.65, 4.85, and 5.45 mmol per liter] in the mother and father of Patient 1 and the mother of Patient 2, respectively) or moderately elevated (260 and 266 mg per deciliter [6.70 and 6.90 mmol per liter] in the father of Patient 2 and the mother of Patient 3, respectively). We did identify two or three unusual sterols in trace amounts (0.1 to 0.2 percent of total sterols) in the chromatograms of three of the parents, but because of their low concentrations we could not analyze these compounds using the methods described above.
Fecal Neutral Sterols and Bile Acids
The results of the analysis of fecal neutral sterols and bile acids in the three girls with the Smith-Lemli-Opitz syndrome are shown in Table 2Table 2
Fecal Neutral Sterols and Bile Acids in Three Girls with the Smith-Lemli-Opitz Syndrome.. 7-Dehydrocholesterol and isomeric dehydrocholesterols were found in all three patients. Although the excretion of cholesterol and bile acid was highest in Patient 3, whose diet was rich in cholesterol, the output of dehydrocholesterols was also considerable. We also analyzed the formula given to Patient 1 (Pregestimil, Mead-Johnson); it contained plant sterols and a trace of cholesterol, but no cholesterol precursors. Hence, cholesterol and the dehydrocholesterols were being secreted into bile by the liver.More secondary bile acids (deoxycholic, lithocholic, and ursodeoxycholic acids) were detected in the feces of Patient 2 than in those of Patient 3; this is not unexpected, since a three-year-old child might be expected to have fewer intestinal bacteria. It is interesting that the ratio of total bile acids to the total amount of sterols II, III, and IV was 0 and 2 in Patients 1 and 2, respectively, but exceeded 10 in Patient 3. An especially notable finding was the virtual absence of bile acids in the feces of Patient 1.
Fibroblast Cultures
The biochemical defect was also readily detectable in cultures of skin fibroblasts from Patient 1. The ratio of 7-dehydrocholesterol to cholesterol was 15 percent, 18 percent, and 18 percent after the second, fourth, and sixth cell passages, respectively. However, neither isomeric dehydrocholesterol II nor sterol III could be detected. Because each passage represented the harvesting and replating of one half to one third of the cells, no more than 1/64 of the original material remained after the sixth passage. Therefore, these fibroblasts must have synthesized measurable quantities of 7-dehydrocholesterol in vitro. No trace of 7-dehydrocholesterol or any other unusual sterol was found in fibroblast cultures from any of the controls.
Discussion
These results demonstrate a major defect in cholesterol biosynthesis in five patients with the Smith-Lemli-Opitz syndrome, three girls with normal karyotypes and two sexually unambiguous boys. The combination of abnormally low plasma cholesterol levels and a markedly elevated concentration of the cholesterol precursor 7-dehydrocholesterol suggests that cholesterol biosynthesis is blocked because of a defect in the reduction of the C-7 double bond of 7-dehydrocholesterol (Figure 4Figure 4
Steps in Cholesterol Biosynthesis., bottom right). Our observation that 7-dehydrocholesterol could be found easily in all tissues indicates that the defect is widespread and probably affects every organ. Although a six-month-old child with the syndrome and an abnormally low plasma cholesterol level of 63 mg per deciliter (1.65 mmol per liter) has been described previously,4 the presence of unusual sterols in patients with this disease has not yet been reported.Cholesterol is synthesized15,16 in mammalian tissues by a multistep process in which mevalonate is condensed to squalene and squalene undergoes cyclization to lanosterol (4,4',14-methyl-5α-cholest-8(9),24-diene-3β-ol). Lanosterol must be demethylated, the C-8(9) double bond isomerized to C-5(6), and the side chain reduced. Demethylation may be the final step, in which case desmosterol (cholest-5,24-dien-3β-ol) is the ultimate cholesterol precursor, or reduction at C-24(25) can occur early so that synthesis proceeds through the intermediates 24,25-dihydrolanosterol (4,4',14-methyl-5α-cholest-8(9)-en-3β-ol), lathosterol (5α-cholest-7-en-3β-ol), and 7-dehydrocholesterol13-18 (Figure 4). It is generally agreed, however,19-25 that the two branches do not constitute separate and mutually exclusive pathways but share common enzymes, including 3β-hydroxysterol s7-reductase and 3β-hydroxysterol s24-reductase. That is, the side-chain double bond can be reduced early, late, or sometime in between, but cholesterol biosynthesis must always include an intermediate with a C-7 double bond20,22,25. Therefore, if the enzyme 3β-hydroxysterol s7-reductase is defective but all other enzymes are functional, one would expect to see reduced cholesterol biosynthesis coupled with an accumulation of 7-dehydrocholesterol.
Experimental compounds that block the action of 3β-hydroxysterol s7-reductase administered to rats elicit precisely this response21-24,26-36. Such studies have also demonstrated that in rats in neonatal or embryonic stages, inhibiting the reduction of 7-dehydrocholesterol to cholesterol can lead to severe tissue and organ abnormalities reminiscent of the Smith-Lemli-Opitz syndrome. These defects include degeneration of neurologic tissue and reduced myelination,26-32 decreased body29,31,33 and brain29 weight, pituitary agenesis,31 nephrotic kidney disorders, increased fetal mortality and cryptorchidism,33,34 clubfoot and cleft lip,33 maxillary and mandibular hypoplasia, and reduced head size31.
The structures of compounds II and III (Figure 2) are uncertain. However, Axelson has recently isolated trace quantities of two isomeric dehydrocholesterols from plasma from adults, which he has identified as cholest-6,8(9)-dien-3β-ol and cholest-5,8(9)-dien-3β-ol8. Because we found that plasma 7-dehydrocholesterol, isomeric dehydrocholesterol II, and sterol III are well esterified, they must be good substrates for either hepatic acyl-coenzyme A:cholesterol O-acyltransferase or lecithin-cholesterol acyltransferase.
It is noteworthy that almost no bile acids were synthesized by Patient 1. This deficiency is probably a direct consequence of her limited ability to synthesize cholesterol. Cholesterol, in addition to being the obligate substrate for biosynthesis of bile acids, induces an increase in the activity of hepatic cholesterol 7α-hydroxylase, the rate-controlling enzyme for bile acid biosynthesis, and the level of its messenger RNA36. Bile acids are essential for the intestinal absorption of lipids, so that a small bile acid pool would further reduce the supply of cholesterol by hindering its absorption from food37.
Patient 3, who was nourished for her first three years by a diet high in cholesterol, had higher plasma cholesterol concentrations than any of the other patients (Table 1). This finding suggests that cholesterol feeding may be useful therapy. However, treatment of the neurologic deficit in the Smith-Lemli-Opitz syndrome will be difficult unless a method can be devised that will deliver cholesterol across the blood-brain barrier to the central nervous system.
It appears reasonably certain (Table 1) that the combination of a grossly elevated plasma 7-dehydrocholesterol level and a reduced plasma cholesterol concentration4 is diagnostic of the Smith-Lemli-Opitz syndrome. In addition, because the defect seems to be expressed in most tissues, prenatal testing for the disease may be possible by assaying amniotic fluid for 7-dehydrocholesterol. Also, it may be possible to identify obligate heterozygotes by a provocative test that stimulates cholesterol biosynthesis, such as the administration of a bile acid-binding resin38. However, it is important to note that routine methods of measuring plasma cholesterol, which use a colorimetric assay, probably detect all 3β-hydroxy sterols as a single entity. Consequently, such tests may yield spuriously high plasma cholesterol concentrations. At present, only a chromatographic assay is suitable for detecting and quantitating 7-dehydrocholesterol.
Supported in part by grants from the Department of Veterans Affairs Research Service (to Drs. Tint and Salen), by grants (DK-18707 and HL-17818) from the National Institutes of Health, and a grant from the Herman Goldman Foundation (to Dr. Salen).
We are indebted to Drs. Richard I. Kelley and John M. Opitz for their many helpful discussions and continuing cooperation and to Bibiana Pcolinsky for her excellent technical assistance. Patient 5 has been cared for by Dr. Opitz.
Source Information
From the Departments of Medicine (GS.T., A.K.B., G.S.) and Pathology (T.S.C.), Veteran Affairs Medical Center, East Orange, N.J., and the University of Medicine and Dentistry-New Jersey Medical School, Newark; the Section of Clinical Genetics, Department of Pediatrics, New England Medical Center, Tufts University School of Medicine, Boston (M.I., E.R.E.); and Elliot Hospital, Manchester, N.H. (R.F.).
Address reprint requests to Dr. Tint at the Veterans Affairs Medical Center, 385 Tremont Ave., East Orange, NJ 07018-1095.
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