TY - JOUR
T1 - Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome
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
Y1 - 1973
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=0015848845&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0015848845&partnerID=8YFLogxK
U2 - 10.1126/science.182.4107.62
DO - 10.1126/science.182.4107.62
M3 - Article
C2 - 4730055
AN - SCOPUS:0015848845
SN - 0036-8075
VL - 182
SP - 62
EP - 64
JO - Science
JF - Science
IS - 4107
ER -