Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.

Neurobiology of Disease
Kirit PindoliaB Wolf

Abstract

Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. We have developed a transgenic knock-out mouse with biotinidase deficiency to better understand aspects of pathophysiology and natural history of the disorder in humans. Neurological deficits observed in symptomatic mice with biotinidase deficiency are similar to those seen in symptomatic children with the disorder. Using a battery of functional neurological assessment tests, the symptomatic mice performed poorly compared to wild-type mice. Demyelination, axonal degeneration, ventriculomegaly, and corpus callosum compression were found in the brains of untreated, symptomatic enzyme-deficient mice. With biotin treatment, the symptomatic mice improved neurologically and the white matter abnormalities resolved. These functional and anatomical findings and their reversal with biotin therapy are similar to those observed in untreated, symptomatic and treated individuals with biotinidase deficiency. The mouse with biotinidase deficiency appears to be an appropriate animal model in which to study the neurological abnormalities and the effects of treatment of the disorder.

References

Jan 1, 1991·Journal of Inherited Metabolic Disease·B Wolf
Apr 9, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·G L Feldman, B Wolf
Jul 1, 1984·Prenatal Diagnosis·J R Secor McVoyB Wolf
Jan 1, 1981·Journal of Inherited Metabolic Disease·L Sweetman
Aug 1, 1983·The Journal of Pediatrics·B WolfD L Hurst
Jul 15, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·B WolfC L Kien
Nov 15, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·J Hymes, B Wolf
Apr 8, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·H C KnightB Wolf
Dec 14, 1999·Learning & Memory·R PaylorA Wynshaw-Boris
Feb 28, 2002·Proceedings of the National Academy of Sciences of the United States of America·Laura CalzaLuciana Giardino
Jun 5, 2003·Annals of Neurology·Jieli ChenMichael Chopp
May 1, 1963·Acta Physiologica Scandinavica·M KOIVUSALO, J PISPA
Jul 17, 2007·Molecular Genetics and Metabolism·Kirit PindoliaBarry Wolf
Nov 23, 2007·Proceedings of the National Academy of Sciences of the United States of America·Roger E DavisVal C Sheffield
Oct 11, 2008·The Journal of Biological Chemistry·Anylu Pérez-MonjarasAlfonso León-Del-Río
Jun 18, 2010·Human Mutation·Kirit PindoliaBarry Wolf
Feb 2, 2015·Molecular Genetics and Metabolism·Barry Wolf

❮ Previous
Next ❯

Citations

Mar 11, 2015·European Journal of Pediatrics·Mehmet KaracaHatice Serap Sivri
Oct 19, 2016·Molecular Genetics and Metabolism Reports·Christian BrigolinBarry Wolf
Jun 9, 2018·Epilepsia Open·Seda SalarAristea S Galanopoulou
Dec 16, 2020·Proceedings of the National Academy of Sciences of the United States of America·Kelly M LohrMel B Feany
May 4, 2021·Frontiers in Cellular Neuroscience·Myriam CayrePascale Durbec

❮ Previous
Next ❯

Related Concepts

Related Feeds

Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic right ventricular dysplasia is a congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the right ventricle wall and loss of myocardial cells. Primary injuries usually are at the free wall of the right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. Discover the latest research on arrhythmogenic right ventricular dysplasia here.

Cardiomegaly

Cardiomegaly, known as an enlarged heart, is a multifactorial disease with different pathophysiological mechanisms. Hypertension, pregnancy, exercise-induced and idiopathic causes are some mechanisms of cardiomegaly. Discover the latest research of cardiomegaly here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Brain developing: Influences & Outcomes

This feed focuses on influences that affect the developing brain including genetics, fetal development, prenatal care, and gene-environment interactions. Here is the latest research in this field.