Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome

Sidney Goldfischer, Cyril L. Moore, Anne B. Johnson, Alfred J. Spiro, Marius P. Valsamis, Henry K. Wisniewski, Robert H. Ritch, William T. Norton, Isabelle Rapin, Lawrence M. Gartner

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Abstract

The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia, cirrhosis, iron and lipid storage, and death within 6 months. Correlated electron microscopic, histochemical, and biochemical studies demonstrate defects in two oxidative organelles. Peroxisomes cannot be found in hepatocytes and renal proximal tubules. In hepatocytes and cortical astrocytes, mitochondria are distorted in their appearance and glycogen stores are increased. Oxygen consumption of brain and liver mitochondrial preparations with succinate and with substrates reducing nicotinamide adenine dinucleotide is markedly diminished, but the consumption is normal with ascorbate and tetramethylphenylenediamine, which suggests a defect in electron transport prior to the cytochromes. Histochemical studies of mitochondrial oxidation point to a defect between the succinate dehydrogenase flavoprotein and coenzyme Q, possibly in the region of nonheme iron protein.

Original languageEnglish (US)
Pages (from-to)62-64
Number of pages3
JournalScience
Volume182
Issue number4107
StatePublished - 1973

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Zellweger Syndrome
Hepatocytes
Nonheme Iron Proteins
Tetramethylphenylenediamine
Flavoproteins
Proximal Kidney Tubule
Muscle Hypotonia
Ubiquinone
Peroxisomes
Succinate Dehydrogenase
Succinic Acid
Cytochromes
Electron Transport
Glycogen
Oxygen Consumption
Astrocytes
Organelles
NAD
Mitochondria
Fibrosis

ASJC Scopus subject areas

  • General

Cite this

Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., ... Gartner, L. M. (1973). Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science, 182(4107), 62-64.

Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome. / Goldfischer, Sidney; Moore, Cyril L.; Johnson, Anne B.; Spiro, Alfred J.; Valsamis, Marius P.; Wisniewski, Henry K.; Ritch, Robert H.; Norton, William T.; Rapin, Isabelle; Gartner, Lawrence M.

In: Science, Vol. 182, No. 4107, 1973, p. 62-64.

Research output: Contribution to journalArticle

Goldfischer, S, Moore, CL, Johnson, AB, Spiro, AJ, Valsamis, MP, Wisniewski, HK, Ritch, RH, Norton, WT, Rapin, I & Gartner, LM 1973, 'Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome', Science, vol. 182, no. 4107, pp. 62-64.
Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK et al. Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science. 1973;182(4107):62-64.
Goldfischer, Sidney ; Moore, Cyril L. ; Johnson, Anne B. ; Spiro, Alfred J. ; Valsamis, Marius P. ; Wisniewski, Henry K. ; Ritch, Robert H. ; Norton, William T. ; Rapin, Isabelle ; Gartner, Lawrence M. / Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome. In: Science. 1973 ; Vol. 182, No. 4107. pp. 62-64.
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AU - Goldfischer, Sidney

AU - Moore, Cyril L.

AU - Johnson, Anne B.

AU - Spiro, Alfred J.

AU - Valsamis, Marius P.

AU - Wisniewski, Henry K.

AU - Ritch, Robert H.

AU - Norton, William T.

AU - Rapin, Isabelle

AU - Gartner, Lawrence M.

PY - 1973

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AB - The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia, cirrhosis, iron and lipid storage, and death within 6 months. Correlated electron microscopic, histochemical, and biochemical studies demonstrate defects in two oxidative organelles. Peroxisomes cannot be found in hepatocytes and renal proximal tubules. In hepatocytes and cortical astrocytes, mitochondria are distorted in their appearance and glycogen stores are increased. Oxygen consumption of brain and liver mitochondrial preparations with succinate and with substrates reducing nicotinamide adenine dinucleotide is markedly diminished, but the consumption is normal with ascorbate and tetramethylphenylenediamine, which suggests a defect in electron transport prior to the cytochromes. Histochemical studies of mitochondrial oxidation point to a defect between the succinate dehydrogenase flavoprotein and coenzyme Q, possibly in the region of nonheme iron protein.

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