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8.2 Wilson's disease

The effects of a protein that is absent, or present but not doing its job, may not be evident for many years. This is called late onset, and is exemplified by Wilson's disease. Many molecules within the body require small amounts of minerals such as iron, magnesium or copper to function properly. There are mechanisms for absorbing these minerals from the diet. However, in excess, these same minerals can be toxic, as is the case with copper. So there are also mechanisms for getting rid
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7.8 Summary of Section 7

This section has sought to illustrate the formation of connections between neurons and their targets by exploring a few examples. The picture that emerges is one of cells at different stages of development subjected to a vast array of signals. These signals are the medium through which environmental factors exert their effects. To some of these signals, some cells respond; to other signals, other cells respond. What a cell, a neuroblast, a growth cone actually does is dependent on the combina
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7.6 Synaptogenesis

The formation of synaptic connections is an essential property of nervous system development. Synapses are formed between neurons and also with targets that are not part of the nervous system, e.g. muscle. Axon terminals, under the direction of a variety of extracellular cues, grow towards particular targets. Once they arrive at the target, they stop growing and the growth cone changes to form a synapse. As with axon growth, the formation of the synapse is dependent on an interaction between
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7.4 Elixirs of the nervous system: neurotrophins

According to Section 7.2 axons obtain an elixir from targets at their synapses.

Confirmation that there is indeed an elixir came from a series of events that reveals how much of science really works. Elmer Bucker, working with Hamburger in the mid-1940s, had removed a limb bud from a chick and replaced it with a tumour from
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7.2 Selected to survive: studies of the PNS

Viktor Hamburger carried out a series of classic embryologieal experiments over a period of about 30 years. He investigated the relationship between the size of target tissue in chick embryos and the size of the pool of neurons that innervated it. His technique was to remove or add target tissue to the tissue which would eventually form a limb, usually the hind limb, and is called the limb bud. A few days later he observed the effect of the tissue addition or removal on the pool of neurons de
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7.1 Neuron proliferation

There is a huge proliferation of neurons in early life. Even whilst that proliferation continues, some cells, e.g. neuroblasts, stop being able to divide. At some later stage the proliferation itself virtually ceases. It follows that cells switch from being able to divide, to being unable to divide, and that they switch at the appropriate time: the process of cell proliferation is controlled. The details of the control of proliferation are not yet understood and are not considered here. But o
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3.4 Sensitive periods

The steroid hormone testosterone plays a major role in the development of mammals. In particular it is instrumental in causing differences between males and females. One well explored difference concerns play-fighting in young rodents. In the rat, play-fighting is a sequence which begins when one animal pounces on another. The pounce is followed by wrestling and/or boxing and the play-fight usually finishes with one animal on top of the other. A similar sequence of play-fighting is seen in yo
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10.3.1 Fluid loss

During an average day, a person in a temperate climate such as the UK, loses about 2.5 litres of water.

Activity 35

How is water lost from the body?

Answer
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4.1 Introduction to minerals and why we need them

Both vitamins and minerals are essential in the diet in small quantities and so they are often grouped together as micronutrients.

Activity 24

Which items in the diet are classified as macronutrients?

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3.6.2 Riboflavin (vitamin B2)

Riboflavin or vitamin B2, which was originally known as vitamin G, is found in a wide variety of foods, including milk and dairy products. It is more stable to heat than some of the other B vitamins, but is destroyed by exposure to sunlight. Milk in a glass bottle exposed to sun, loses 10% of its riboflavin per hour. Riboflavin plays a crucial role in the metabolism of carbohydrates and proteins and is involved in many other metabolic reactions in the body.

Although riboflavi
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4 From DNA to RNA: transcription

In the process of transcription, the information in a gene, i.e. the DNA base sequence, is copied, or transcribed, to form an RNA molecule. RNA is therefore an intermediary in the flow of information from DNA to protein. Before we consider the details of transcription, we will first look at the structure of RNA.

The name ribonucleic acid suggests that RNA is chemically related to DNA. Like DNA, RNA is a chain of nucleotides.

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1 Using information stored in DNA

One important property of DNA is that it carries genetic information in the simple coding language of just four bases. These bases, which can be arranged in a huge variety of sequences, represent a vast potential store of information. In this unit, we consider how this information is used by the cell. The key structural feature of complementary base pairs, which plays an important role in both stability and replication, is also the basis for how DNA functions as genetic material.

How do
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1.1.5 Late-onset single-gene disorders

An individual might know that a late-onset disease such as Huntington's disease (HD) is present in their immediate family and that they might have inherited the disease gene(s). The problems of genetic testing for HD revolve around the fact that it is pre-symptomatic.

One dilemma is the long delay between testing positive and developing the clinical symptoms of the disorder in middle age. Is it better not to know and live in hope, or as one victim cried ‘get it over, I'm so tir
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Learning outcomes

After studying this unit you should understand:

  • something of the role of a genetic counsellor and its non-directiveness

  • the difference between pre-natal diagnosis, childhood testing and adult testing and give some examples of diseases that may be tested for

  • the ethical and moral difficulties involved in making decisions on whether or not to carry out such tests


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Acknowledgements

The content acknowledged below is Proprietary (see terms and conditions) and is used under licence. This content is made available under a Creative Commons Attribution-NonCommercial-ShareAlike 2.0 Licence

Grateful acknowledgement is made to the following sources for permission to reproduce material in this unit:


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5 Summary

Section 1 Superconductivity was discovered in 1911, and in the century since then there have been many developments in knowledge of the properties of superconductors and the materials that become superconducting, in the theoretical understanding of superconductivity, and in the applications of superconductors.

Section 2 A superconductor has zero resistance to flow of electric current, and can sustain a current indefinitely. The magnetic flux remains constant in a completel
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2.5 Critical current

The current density for a steady current flowing along a wire in its normal state is essentially uniform over its cross-section. A consequence of this is that the magnetic field strength B within a wire of radius a, carrying current I, increases linearly with distance from the centre of the wire, and reaches a maximum value of μ0I / 2Author(s): The Open University

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2.4 Critical magnetic field

An important characteristic of a superconductor is that its normal resistance is restored if a sufficiently large magnetic field is applied. The nature of this transition to the normal state depends on the shape of the superconductor and the orientation of the magnetic field, and it is also different for pure elements and for alloys. In this subsection we describe the behaviour in the simplest situation; we shall discuss other more complex behaviour in Section 4.

If an increasing magnet
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2.2 Persistent currents lead to constant magnetic flux

An important consequence of the persistent currents that flow in materials with zero resistance is that the magnetic flux that passes through a continuous loop of such a material remains constant. To see how this comes about, consider a ring of metal, enclosing a fixed area A, as shown in Figure 6a. An initial magnetic field B0 is applied perpendicular to the plane of the ring when the temperature is above the critical temperature of the material from which the rin
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2.1 Zero electrical resistance

In this section we shall discuss some of the most important electrical properties of superconductors, with discussion of magnetic properties to follow in the next section.

The most obvious characteristic of a superconductor is the complete disappearance of its electrical resistance below a temperature that is known as its critical temperature. Experiments have been carried out to attempt to detect whether there is any small residual resistance in the superconducting state. A sensitive t
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