Where is the problem?

What is Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder. LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. ...build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease. More at NIH Website.

Below is a link to a vdeo clip done by nursing students. It is difficult to watch and has some spelling errors, but it shows the ravages of LNS. I just wanted to give warning. It is not required viewing.

CLIP LINK

Intro to Cystic Fibrosis

Look further for information on how long CF patients life spans are...

Huntington's Story

Huntington's Chorea (Chromosome 4)

Huntington's disease results from genetically programmed degeneration of nerve cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. Specifically affected are cells of the basal ganglia, structures deep within the brain that have many important functions, including coordinating movement. Also affected is the brain's outer surface, or cortex, which controls thought, perception, and memory.

Read More at Web MD

(WebMD)

Genetic Chart

How These Genetic Disorders Happen....

Genetic abnormalities can happen due to small mutation in a single gene,an addition or deletion of an entire chromosome or set of chromosomes.

Exam Information

Hello Everyone-

Just a few things to say about this exam...it is on chapters one and two of your textbook, heavy emphasis on Chapter 2. Many of the questions will look similar to quiz questions. You may also have diagrams (think cell and brain lobes) as well as short answer and essay.

Everything given to you in the midterm discussion area is considered study guide information. Since I am leaving to go out of town tomorrow, if you still haven't given me your group info study notes, you will have to post it yourself in the discussion areas of Blackboard.

I suggest that you attempt downloading all of your study guide powerpoint slides information immediately- if you wait until the last minute and your computer is acting badly or Blackboard is acting up...doesn't really matter, becuase you should already have all of this information in had, because I am giving it to you today. In other words, there will be no accepted excuses.

At this point, it is expected that you have the textbook, and you are responsible for its contents. You are expected to have a computer and internet connection that you are able to access. You have nearly two weeks to get it all together, and study.

I also suggest that you do a study group before or after class next Monday.

So that is it...I will be in here all day if you come up with more questions. Post them in the "Ask professor Holmes" section so everyone can see the answer.

Thank you, and best of luck- I know you will do fine!

Dr. Holmes

Neural Impulse 3D

Cell Tutorial Game

A somewhat helpful tutorial...
CLICK HERE

Early Post for Study Help

This is probably the most difficult part of the course (Chapter 2). Students have been immensely helpd by making flashcards right away and learning from the very start of class.


Glossary for Chapter 2 (taken Directly from Your Text):
Hope this proves helpful for studying!

Allostasis The process of maintaining stability through change.
Allostatic load The cumulative cost to the body of allostasis; allostatic overload is a state in which serious pathophysiology can occur.
Amino acids A group of nitrogen-containing organic compounds that serve as the units of structure associated with proteins.
Angina pectoris A coronary condition involving pain and tightness in the chest.
Autosomes Chromosomes other than sex chromosomes.
Axons Long fibers that carry impulses from the cell body of a neuron to other cells.
Canalization The process by which people inherit general pathways that constrain their growth and developmental processes.
Central nervous system The brain and spinal cord.
Chromosome disorders Abnormalities or defects caused by errors in an entire chromosome or part of a chromosome.
Cystic fibrosis A serious disease of the exocrine gland that causes secretion of excess, thick body fluids.
Dendrites The branched fibers on the cell body that bring messages to the cell body of the neuron.
Development The refinement or improvement of body components.
Diastolic pressure The measure of the blood’s flow during the relaxation of the heart.
Differentiation theory The view that all information needed to interpret sensory input is contained in the sensations themselves.
Dominant gene A gene that is always expressed for a trait, in paired genes.
Down syndrome A disorder, characterized by mental retardation, that is associated with the presence of three chromosomes, rather than a pair, for chromosome 21.
Endocarditis An infection or other factor that damages the heart’s valves.
Fragile X syndrome A serious form of mental retardation that is identified in karyotype studies by a constriction at the end of the long arm of the X chromosome.
Frontal lobe The portion of the brain that participates in body movements, thinking, feeling, imagining, and making decisions.
Genotype The actual genes an individual carries for a specific trait.
Glia The supporting cells that make up the bulk of the brain.
Gray matter Areas of the nervous system with a high density of cell bodies and dendrites with few myelinated axons.
Growth A technical term that refers to the addition of new biophysical components, such as new cells or an increase in body size.
Hemophilia A condition that is due to a defective gene on the X chromosome that causes a defi ciency in the blood coagulation factor VIII.
Huntington’s chorea A disorder involving a dominant autosomal gene and characterized by progressive chorea (purposeless motions) and the eventual development of dementia (mental deterioration).
Hyperplasia The type of growth that involves an increase in the number of cells.
Hypertrophic growth The type of growth in which increases are observed in the size of cells.
Klinefelter’s syndrome A condition in which a male is born with an extra X chromosome (XXY).
Lesch-Nyhan syndrome A disorder that involves a gene on the X chromosome and is characterized by mental retardation, spasticity, and self-mutilation.
Malignant tumors Tumors that are not self-contained.
Meiosis The process of cell division that creates the sex cells.
Mitosis The cellular process in which a body cell reproduces itself by dividing and producing two new daughter cells.
Mitral valve prolapse A valvular disease of the heart involving the protrusion of one or both cusps of the mitral valve back into the left atrium.
Monoamines A group of nonacidic neurotransmitters, such as dopamine, norepinephrine, epinephrine, and serotonin.
Multifactorial disorders Developmental disorders caused by multiple genes.
Mutation Random events that distort key characteristics in an organism’s growth and development.
Myelination The process of coating the nerve cells with myelin, a substance that forms around neurons and acts as insulation, allowing faster and more efficient transmission of nerve impulses.
Myocardial infarction The condition in which insufficient oxygen is directed to the heart’s muscle.
Myocarditis An infection or other factor that damages the heart’s muscle.
Neurons The cells in the nervous system involved in conveying information from one cell to another.
Neurotransmitters Chemicals that are synthesized inside the neuron.
Occipital lobe Part of brain located below the parietal lobe and involved in the receiving and sending of visual information.
Parasympathetic nervous system The branch of the nervous system that counteracts the activities of the sympathetic nervous system and conserves body resources
Parietal lobe The portion of the brain that is primarily involved in the process of integrating sensory information.
Peptides Chains of amino acids.
Pericardium The thin sac that encloses the heart.
Peripheral nervous system All those nerves that lie outside the brain and spinal cord.
Phenotype The trait expressed by genes in the individual.
Proliferation The stage in brain development when neurons are produced.
Proteins Any organic compound that has a large combination of amino acids.
Purines The category of chemicals that includes adenosine.
Recessive gene The gene that is not expressed in a trait unless paired with a similar or homozygous gene.
Single-gene disorders Inherited dysfunctions or defects that result from dominant, recessive, or X chromosome–linked genes.
Sympathetic nervous system The branch of the nervous system that mobilizes the body for emergencies.
Synaptic cleft The space between any two neurons or between a neuron and another cell.
Systolic pressure A measure of the heart when it is constricting and pumping blood out and through the body.
Tay-Sachs disease A neurodegenerative disorder that is characterized by progressive mental and physical retardation.
Temporal lobe The portion of the brain involved in emotions and human motivation.
Tumor Mass of purposeless tissue caused by cell growth.
Turner’s syndrome Condition in which a female is born with only one X chromosome (X0).