Biochemistry, Volume 2, Second Edition: The Chemical Reactions of Living Cells
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Loss of foveal reflex as result of foveal hypoplasia b. Retinal detachment due to instability of the retinal pigment epithelium c. Macular hole with vitreomacular traction d. Central serous chorioretinopathy e. Epiretinal membrane and macular pseudohole. A couple recently sought genetic counseling after the birth in of a male infant with tyrosinase-negative OCA. The absence of tyrosinase activity in the epidermal melanocytes was confirmed by the electron microscopic DOPA reaction test performed on their male child.
A DNA analysis revealed the presence of one of the two known mutations in the father, but no maternal gene mutation could be identified.
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Molecular genetic testing for OCA1 by specialized laboratories involves sequencing of the 5 coding exons of the TYR gene and adjacent intronic sequences. Over 90 different tyrosinase gene mutations have been reported worldwide in cases of tyrosinase-negative OCA, many in recent years. When this woman became pregnant a second time in , skin from the upper trunk of the fetus was obtained by ultrasound-guided biopsy at the 20th week of gestation.
Accordingly, a diagnosis of tyrosinase-negative OCA was made. The parents requested that the pregnancy be terminated. Albinism is a genetic disease that results in reduced or absent production of melanin pigment with associated clinical characteristics of hypopigmentation of the skin, hair, and eyes. There are four main types of OCA. OCA1 is further subdivided into two types. Type 1A that is characterized a complete lack of tyrosinase enzymatic activity whereas type1B exhibits reduced tyrosinase activity 1.
OCA3 is associated with mutation in the tyrosinase related protein gene.
OCA4 is associated with mutations in the membrane associated transporter gene. OCA1 is an autosomal recessive disorder caused by mutations in the TYR gene on chromosome 11q with a prevalence of approximately 1 in 40, 1 , but the actual incidence of disease can vary depending on the population being studied. Most cases of OCA1 are inherited in an autosomal recessive or compound heterozygous mode of inheritance.
OCA1 is not a disease of a single gene mutation, but in fact can result from a variety of different types of mutations including missense, nonsense, and frameshift mutations 2. Human tyrosinase is an integral membrane copper binding glycoprotein that contains amino acids. This enzyme catalyzes the oxidation of tyrosine via incorporation of molecular oxygen to form dopa and subsequently catalyzes the oxidation of dopa to dopaquinone 3 , reactions required for the ultimate production of melanin pigment.
Consequently there is a lack of melanin pigment production. In animals, the expression of tyrosinase occurs in specialized organelles known as melanosomes, which are present in melanin-producing melanocytes. These specialized cell types are present in skin, iris and retinal pigment epithelium of the eyes, and hair 3.
Prenatal Diagnosis: Option 1 Acquisition of fetal cells using amniocentesis, followed by genetic analysis of fetal genomic tyrosinase by allele-specific hybridization and polymerase chain reaction amplification of the mutated gene 5. Option 2 At 20 weeks gestation, an electron microscopic examination of a fetal skin biopsy can reveal the presence or absence of melanin in epidermis and hair-bulb melanocytes 6, 7.
Postnatal Diagnosis: Postnatal diagnosis is based largely on clinical and ocular examination.
Postnatal diagnosis was previously supported by determining hair bulb tyrosinase activity. Recent progress in linear PCR and automated DNA sequencing techniques allows rapid determination of specific tyrosinase mutations 6, 7. The management of OCA involves protecting the skin and maximizing vision. Skin protection with UV barriers and clothing is particularly important due to the substantially increased risk of skin cancers. As children, albinos should be carefully and fully refracted in order to prevent anisometropic amblyopia.
If strabismus develops, it is correctly surgically. Special education and low vision aids may be necessary, but most albino children attend regular school 4. Last Modified: October 9, page maintained by Dr. Case Study Printable PDF Learning Objectives Describe the genetics and biochemistry of OCA1 Describe the typical clinical presentation of OCA1 Review the screening and diagnostic options for OCA1 in the prenatal setting Create a plan for genetic counseling of family members for patients with OCA1 Create a plan for genetic counseling of family members for patients with OCA1 Understand the importance of thorough ophthalmic management of patients with OCA1 and the negative outcomes associated with a lack of appropriate medical management in this patient population Pretest Questions What is the genetic defect that leads to the development of type 1 Oculocutaneous Albinism OCA1 and absence of melanin pigment?
The author states his intentions as aiming to present a well-integrated, up-to-date and reliable text and reference book and to convey the excitement of present day biochemical studies, in a text written primarily for graduate students and undergrads with adequate training in chemistry.
BIOCHEMISTRY: The Chemical Reactions of Living Cells - Books - File Catalog - BGE & MMB
His success? An admirable reference text, especially for grad students and academics. This textbook is thorough, current in its coverage, balanced in handling areas of dispute, and an outstanding introduction to the research literature. For practicing professionals who want an up-to-date reference, particularly if their own coursework were some years ago, this would be an excellent choice.
Considering it, however, as a text for undergraduates, I would have to recommend against this as a required text. Last, in my opinion there is not enough material on the applications of biochemistry to clinical problems. In summary, this second edition is one of the most thorough textbooks of biochemistry I have encountered. It is highly recommended as a reference text and recommended with reservations for adoption in regular biochemistry courses.
Charles P. Woodbury, Jr. Pergamon Elsevier Science Ltd. In this second edition Volume 22 in the Tetrahedron Organic Chemistry Series , Hassner and Stumer have expanded the content of the first edition by adding additional name reactions now a total of reactions. Other changes include elimination of some older and less utilized reactions; however, those reactions still are listed in the Name Index, with reference to the first edition.
The authors have also incorporated a functional group transformation index, which should be of value to both researchers looking for avenues to a particular transformation and students in the process of learning and categorizing reactions.
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The format of the book is very crisp and concise: a graphical example of the reaction; an extensive reference list, including the original reference s ; and, in perhaps half the reactions, an example of the actual reaction conditions. The structure drawings are of high quality, and errors appear to be minimal e. As such, it will be of considerable utility to practicing organic chemists and to students seeking to learn the vast array of reactions available to practitioners of modern organic synthesis. Institutional libraries should all have this volume, as should practitioners of organic synthesis and any serious student of organic synthesis.
NPU ISBN This book consists of six independent chapters covering various aspects of secondary metabolites and provides a very good introduction for undergraduate and intermediate students to some important topics on natural products. As the title suggests, the book focuses on metabolites from terrestrial plants, although some chapters also deal with a few substances from animals, fungi, lichens, and actinomycetes.
Chapter 1 is introductory and provides a general overview of natural products with particular emphasis being placed on the basic and traditional methods used for the isolation, biosynthetic studies, and structure elucidation of secondary metabolites. The part concerning the isolation of natural products is primarily focused on chromatographic techniques.
The remaining chapters recount different classes of natural products and include subsections on classification, biosynthesis, identification, and, in some cases, their reactivity and spectroscopic properties; the economic importance and the natural sources of some metabolites are also included. Chapter 2 deals with some aliphatic compounds, such as fatty acids, eicosanoids, and acetogenins. Chapter 3 describes different types of aromatic compounds including polyketides, shikimic acid-derived metabolites, and a few of mixed biogenetic origin.
In addition, this chapter considers metabolites not only from plants but also from lichens, fungi, and actinomycetes; the flavonoids are the most Book Reviews extensively discussed compounds in this section. Chapter 4 deals with the family of terpenoids and provides excellent coverage of the biogenesis of the most important terpenoid backbones; unfortunately, in this chapter the authors do not emphasize the importance of the DOXP pathway for the biosynthesis of such compounds.
Chapter 5 describes the most important groups of alkaloids, as well the general methods for the detection, isolation, and chemical characterization of this type of natural products.
In this chapter, one can find detailed biosynthetic pathways as well as classical methods for synthesis e. Finally, Chapter 6 provides some brief considerations on diverse important antibiotics isolated from different natural sources and biosynthesized throughout different pathways. Unfortunately, this chapter is too short for such a broad topic.