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Biotinidase

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Barry Wolf – One of the best experts on this subject based on the ideXlab platform.

  • Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders
    Multiple sclerosis and related disorders, 2019
    Co-Authors: Barry Wolf

    Abstract:

    Abstract Background Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes. Methods Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with Biotinidase deficiency. These individuals have exhibited myelopathy, paresis and/or spastic diplegia/tetraplegia with or without optic neuropathy/vision loss. These older individuals with Biotinidase deficiency were considered initially to have multiple sclerosis or similar disorders before they were determined to have Biotinidase deficiency. Results If a symptomatic individual with Biotinidase deficiency is treated with biotin early enough, the symptoms markedly improve or completely resolve, but if treatment is delayed, the symptoms may be irreversible. Conclusion Therefore, although Biotinidase deficiency is rare relative to that of multiple sclerosis, the disorder should be included in the differential diagnosis of individuals thought to have multiple sclerosis or related disorders. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis or related disorders.

  • successful outcomes of older adolescents and adults with profound Biotinidase deficiency identified by newborn screening
    Genetics in Medicine, 2017
    Co-Authors: Barry Wolf

    Abstract:

    We began screening newborns for Biotinidase deficiency disorder in 1984, and now all states in the United States and many countries perform this screening. The purpose of this study was to determine the outcomes of older adolescent and adult individuals with the disorder identified by newborn screening. We located and surveyed, by questionnaire and telephone interviews, 44 individuals with profound Biotinidase deficiency identified by newborn screening with a mean age of 23.1 years. All individuals had successfully completed high school, and many were attending or had completed college or graduate school. Compliance in using biotin has been excellent. Several individuals developed a variety of symptoms when they discontinued biotin for days or weeks. These features readily resolved when biotin was resumed. In addition, five treated women had nine uneventful pregnancies and deliveries. Newborn screening for profound Biotinidase deficiency and early treatment with biotin result in excellent outcomes for older adolescents and adults with the disorder. In addition, mothers with profound Biotinidase deficiency who were treated with biotin had pregnancies with good outcomes. These outcome results indicate that newborn screening for Biotinidase deficiency is one of the most successful newborn screening programs. Genet Med 19 4, 396–402.

  • irreversibility of symptoms with biotin therapy in an adult with profound Biotinidase deficiency
    JIMD reports, 2017
    Co-Authors: Patrick Ferreira, Barry Wolf, Alicia Chan

    Abstract:

    We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered in the differential diagnosis, and the definitive diagnosis was not made until pathological variants of the Biotinidase gene (BTD) were found by exome sequencing. Profound Biotinidase deficiency was confirmed by enzyme analysis. Unfortunately, her symptoms did not resolve or improve with biotin treatment. Biotin therapy is essential for all individuals with profound Biotinidase deficiency and for preventing further damage in those who already exhibit irreversible neurological damage. Newborn screening for the disorder would have avoided years of clinical symptoms that now appear to be irreversible with biotin treatment.

Paul G. Walfish – One of the best experts on this subject based on the ideXlab platform.

  • Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness
    PLOS ONE, 2012
    Co-Authors: Anthony K.-c. So, Jatinder Kaur, Jasmeet Assi, Christina Macmillan, Ranju Ralhan, Paul G. Walfish

    Abstract:

    : Biotinidase was identified in secretome analysis of thyroid cancer cell lines using proteomics. The goal of the current study was to analyze the expression of Biotinidase in thyroid cancer tissues and fine needle aspiration (FNA) samples to evaluate its diagnostic and prognostic potential in thyroid cancer. Immunohistochemical analysis of Biotinidase was carried out in 129 papillary thyroid cancer (PTC, 34 benign thyroid tissues and 43 FNA samples and correlated with patients’ prognosis. Overall Biotinidase expression was decreased in PTC compared to benign nodules (p = 0.001). Comparison of aggressive and non-aggressive PTC showed decrease in overall Biotinidase expression in the former (p = 0.001). Loss of overall Biotinidase expression was associated with poor disease free survival (p = 0.019, Hazards ratio (HR) = 3.1). We examined the effect of subcellular compartmentalization of nuclear and cytoplasmic Biotinidase on patient survival. Decreased nuclear expression of Biotinidase was observed in PTC as compared to benign tissues (p

  • Biotinidase is a novel marker for papillary thyroid cancer aggressiveness
    PLOS ONE, 2012
    Co-Authors: Anthony K.-c. So, Jatinder Kaur, Jasmeet Assi, Christina Macmillan, Ranju Ralhan, Paul G. Walfish

    Abstract:

    : Biotinidase was identified in secretome analysis of thyroid cancer cell lines using proteomics. The goal of the current study was to analyze the expression of Biotinidase in thyroid cancer tissues and fine needle aspiration (FNA) samples to evaluate its diagnostic and prognostic potential in thyroid cancer. Immunohistochemical analysis of Biotinidase was carried out in 129 papillary thyroid cancer (PTC, 34 benign thyroid tissues and 43 FNA samples and correlated with patients’ prognosis. Overall Biotinidase expression was decreased in PTC compared to benign nodules (p = 0.001). Comparison of aggressive and non-aggressive PTC showed decrease in overall Biotinidase expression in the former (p = 0.001). Loss of overall Biotinidase expression was associated with poor disease free survival (p = 0.019, Hazards ratio (HR) = 3.1). We examined the effect of subcellular compartmentalization of nuclear and cytoplasmic Biotinidase on patient survival. Decreased nuclear expression of Biotinidase was observed in PTC as compared to benign tissues (p<0.001). Upon stratification within PTC, nuclear expression was reduced in aggressive as compared to non-aggressive tumors (p<0.001). Kaplan-Meier survival analysis showed significant association of loss of nuclear Biotinidase expression with reduced disease free survival (p = 0.014, HR = 5.4). Cytoplasmic Biotinidase expression was reduced in aggressive thyroid cancers in comparison with non-aggressive tumors (p = 0.002, Odds ratio (OR) = 0.29) which was evident by its significant association with advanced T stage (p = 0.003, OR = 0.28), nodal metastasis (p<0.001, OR = 0.16), advanced TNM stage (p<0.001, OR = 0.21) and extrathyroidal extension (p = 0.001, OR = 0.23). However, in multivariate analysis extrathyroidal extension emerged as the most significant prognostic marker for aggressive thyroid carcinomas (p = 0.015, HR = 12.8). In conclusion, loss of overall Biotinidase expression is a novel marker for thyroid cancer aggressiveness.

Kirit Pindolia – One of the best experts on this subject based on the ideXlab platform.

  • characterization and functional analysis of cellular immunity in mice with Biotinidase deficiency
    Molecular Genetics and Metabolism, 2014
    Co-Authors: Barry Wolf, Kirit Pindolia, Hong Li, Cisley Cardwell

    Abstract:

    Abstract Biotinidase deficiency is an autosomal recessively inherited metabolic disorder that can be easily and effectively treated with pharmacological doses of the vitamin, biotin. Untreated children with profound Biotinidase deficiency may exhibit neurological, cutaneous and cellular immunological abnormalities, specifically candida infections. To better understand the immunological dysfunction in some symptomatic individuals with Biotinidase deficiency, we studied various aspects of immunological function in a genetically engineered knock-out mouse with Biotinidase deficiency. The mouse has no detectable Biotinidase activity and develops neurological and cutaneous symptoms similar to those seen in symptomatic children with the disorder. Mice with profound Biotinidase deficiency on a biotin-restricted diet had smaller thymuses and spleens than identical mice fed a biotin-replete diet or wildtype mice on either diet; however, the organ to body weight ratios were not significantly different. Thymus histology was normal. Splenocyte subpopulation study showed a significant increase in CD4 positive cells. In addition, in vitro lymphocyte proliferation assays consistently showed diminished proliferation in response to various immunological stimuli. Not all symptomatic individuals with profound Biotinidase deficiency develop immunological dysfunction; however, our results do show significant alterations in cellular immunological function that may contribute and/or provide a mechanism(s) for the cellular immunity abnormalities in individuals with Biotinidase deficiency.

  • Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation clues for the pathogenesis in the human inherited disorder
    Molecular Genetics and Metabolism, 2013
    Co-Authors: Alain De J Hernandezvazquez, Barry Wolf, Kirit Pindolia, Daniel Ortegacuellar, R Hernandezgonzalez, A Herediaantunez, Isabel Ibarragonzalez, Antonio Velazquezarellano

    Abstract:

    Abstract Biotin is the prosthetic group of carboxylases that have important roles in the metabolism of glucose, fatty acids and amino acids. Biotinidase has a key role in the reutilization of the biotin, catalyzing the hydrolysis of biocytin (e-N-biotinyl- l -lysine) and biocytin-containing peptides derived from carboxylase turnover, thus contributing substantially to the bioavailability of this vitamin. Deficient activity of Biotinidase causes late-onset multiple carboxylase in humans, whose pathogenic mechanisms are poorly understood. Here we show that a knock-out Biotinidase-deficient mouse from a C57BL/6 background that was fed a low biotin diet develops severe ATP deficit with activation of the energy sensor adenosine monophosphate (AMP)-activated protein kinase (AMPK), inhibition of the signaling protein mTOR, driver of protein synthesis and growth, and affecting the expression of central-carbon metabolism genes. In addition, sensitivity to insulin is augmented. These changes are similar to those observed in nutritionally biotin-starved rats. These findings further our understanding of the pathogenesis of human Biotinidase deficiency.

  • neurological deficits in mice with profound Biotinidase deficiency are associated with demylination and axonal degeneration
    Neurobiology of Disease, 2012
    Co-Authors: Kirit Pindolia, Barry Wolf, Cisley Cardwell, Jieli Chen, Michael Chopp

    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.