Acid mucopolysaccharides in cultured human fibroblasts.

TY - JOUR

T1 - Acid mucopolysaccharides in cultured human fibroblasts.

AU - Matalon, R.

AU - Dorfman, A.

N1 - Funding Information: tose ; and p-N-acetylgaIactosaminide linkages are shared by both groups of compounds. It is possible that an endogalactosidase may play a part in degra- dation of acid mucopolysaccharides. Low acid P-galactosidase levels have been re- ported. 18 30 Ho and O’Brien 31 have shown a difference between Hurler and normal tissues of acid-&bgr;-galacto- sidase patterns on starch-gel electrophoresis. The increasing number of diseases which are associated with metachromasia of cultured fibroblasts both extends the usefulness of the method and limits specificity for diagnosis and genetic counselling. If useful conclusions are to be drawn methods adequate for zygosity determination are needed. More careful quantitative work might enable heterozygotes from homozygotes to be distinguished. In certain situations tissue-culture has already proved quite valuable for genetic counselling. Studies on fathers of male patients with Hurler’s or Hunter’s syndrome indicate whether unaffected female siblings of such patients carry the Hunter or Hurler gene. This determination is of great prognostic value since a female may expect half of her sons to be affected if she carries the Hunter gene, irrespective of the genetic make-up of her husband; if she carries the Hurler gene, only in the rare circumstances of mating with another carrier of the Hurler gene would a quarter of her children be affected. Amniotic cells obtained early in pregnancy can be used as a source of fibroblasts.32 This method has been used for the prenatal diagnosis of a case of Hurler’s disease.33 Studies based on such cells might be used as an indication for interruption of pregnancy. The data reviewed here indicate that although such a determination might eventually be possible, sufficient information is not yet available for such unqualified application. When this becomes possible, important moral and legal problems will be raised. This research was supported by grants from the U.S. Public Health Service (AM-05996, FR-00305), the Chicago Heart Association, and the National Cystic Fibrosis Foundation. We thank Harry Schwachman and Dr. Arthur 0. Stein for the referral of their patients, Dr. J. A. Cifonelli and Dr. Lennart Rodén for helpful discussions, and Mrs. Bonnie B. Sipe, Miss Minerva Norella, and Miss Kanitha Frogner for technical assistance. Requests for reprints should be addressed to R. M., Depart-ment of Pediatrics, University of Chicago, 950 East 59th Street, Chicago, Illinois 60637, U.S.A.

PY - 1969/10/18

Y1 - 1969/10/18

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U2 - 10.1016/s0140-6736(69)92289-2

DO - 10.1016/s0140-6736(69)92289-2

M3 - Article

C2 - 4186295

AN - SCOPUS:0014683553

SN - 0140-6736

VL - 2

SP - 838

EP - 841

JO - Lancet

JF - Lancet

IS - 7625

ER -