Use this space to map your dystrophin analogy. Make sure to include sarcolemma (cell membrane),
dystrophin, myofibril, and the relationship between structure and function

Please help answer this question

Answers

Answer 1

Abstract

The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of function mutations in the genes encoding dystrophin, or the associated proteins, triggers instability of the plasma membrane and myofiber loss. Mutations in dystrophin have been extensively cataloged providing remarkable structure-function correlation between predicted protein structure and clinical outcomes. These data have highlighted dystrophin regions necessary for in vivo function and fueled the design of viral vectors and now, exon skipping approaches for use in dystrophin restoration therapies. However, dystrophin restoration is likely more complex, owing to the role of the dystrophin complex as a broad cytoskeletal integrator. This review will focus on dystrophin restoration, with emphasis on the regions of dystrophin essential for interacting with its associated proteins and discuss the structural implications of these approaches.

Keywords: muscular dystrophy, dystrophin, spectrin repeat, exon skipping, sarcoglycan, sarcolemma

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INTRODUCTION

Muscular dystrophy is a collection of inherited diseases characterized by skeletal muscle weakness and degeneration. Muscular dystrophies are progressive disorders because over time healthy muscle fibers are lost and replaced by fibrosis and fat, making muscle tissues less able to generate force for everyday activity. As muscle wasting ensues, patients experience weakness, although muscle groups may be targeted differently in specific forms of muscular dystrophy. Respiratory failure, resulting from the weakening of breathing muscles, may limit lifespan in muscular dystrophy unless mechanical support is instituted. In some forms of muscular dystrophy, the heart is also affected resulting in cardiac complications including heart failure and irregular heart rhythms.

Duchenne muscular dystrophy (DMD) is one of the most common forms of muscular dystrophy. DMD is caused by recessive mutations in the dystrophin gene on X chromosome, affecting 1 in 3,500 to 5,000 newborn males worldwide (82). Boys with DMD show signs of muscle weakness early in childhood, typically between 2 and 7 years of age, and often lose ambulation around the time of puberty. DMD boys may have delayed development of motor skills such as sitting, walking and talking. Becker muscular dystrophy (BMD) is also caused by mutations in the DMD gene that encodes dystrophin. Individuals with BMD share similar signs and symptoms with DMD boys but with later onset and more varied time course. Like DMD, the heart can be affected in BMD.

The dystrophin gene is the largest known human gene, containing 79 exons and spanning > 2,200 kb, roughly 0.1% of the whole genome (96). The most common mutation responsible for DMD and BMD is a deletion spanning one or multiple exons. Such deletions account for 60–70% of all DMD cases and 80~85% BMD cases (58, 147). Point mutations are responsible for around 26% of DMD cases and 13% BMD cases. Exonic duplications account for 10 to 15% of all DMD cases and 5% to 10% BMD cases. Subexonic insertions, deletions, splice mutations and missense mutations account for the rest of the cases. DMD is associated with mutations that disrupt the protein’s reading frame causing premature stop codons. These mutated transcripts are susceptible to nonsense mediate decay, and the carboxy-terminal truncated protein products are also unstable and subject to degradation, leaving little or no protein produced in cells. In contrast, BMD patients usually have in-frame deletions that maintain the correct reading frame. Furthermore, nonsense mutations have been associated with both BMD and DMD. However, nonsense mutations associated with BMD are more prone to induce exon skipping than those found in DMD (59). The resulting protein products in BMD are internally truncated and expressed at lower levels than normal muscle. However, these internally truncated proteins are expressed at higher levels than in DMD and remain partially functional. Within one BMD affected family, three males carrying the same nonsense mutation in exon 29 displayed phenotypes from severe, mild to asymptomatic. This nonsense mutation is located in an exon recognition sequence in exon 29 and induces partial skipping of exon 29, producing an internally truncated dystrophin. A considerable amount s

Answer 2

Dystrophin is a complex structure that acts as an anchor, which connects the muscle cell cytoskeleton to the lattice of the protein and other extracellular matrix molecules.

What is dystrophin?

It acts as a subsarcolemmal rod-shaped protein having a function to stabilize the sarcolemma, by connecting the extracellular matrix to the actin cytoskeleton through the dystrophin-associated glycoprotein complex.

This connection through the dystrophin-associated glycoprotein complex for sarcolemma maintains muscle cells from contraction-induced damage.

Dystrophin myofibril is a protein complex located between the sarcolemma and the outermost layer of myofilaments in the muscle fiber (myofiber). This is located at the muscle sarcolemma.

Therefore, dystrophin is a complex structure that connects the muscle cell cytoskeleton to the extracellular matrix.

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Related Questions

Which animal has modified ecosystems more than any other animal and has had the greatest negative impact on world ecosystems?
gypsy moth
zebra mussel
human
shark

Answers

Answer:

Humans

Explanation:

Obviously

Blood must be maintained at a fairly constant pH between 7.35 - 7.45. One of the principal buffers responsible for doing this consists of carbonic acid in equilibrium with bicarbonate ions. If you breathe too deeply or rapidly, a condition known as hyperventilation may occur in which some muscles are temporarily paralyzed because the pH of the blood becomes too high.

Explain why the pH changes in this way and why the condition can be corrected by breathing in a paper bag.

Answers

Answer:

The most important way that the pH of the blood is kept relatively constant is by buffers dissolved in the blood. Other organs help enhance the homeostatic function of the buffers. The kidneys help remove excess chemicals from the blood, as discussed in the Kidney Dialysis tutorial.

Explanation:

hope it helps you

Which complex carbohydrate has 3 to 10 simple sugar units and cannot be broken down by the body's digestive enzymes

Answers

Oligosaccharides are complex carbohydrates that have 3 to 10 simple sugar units and cannot be broken down by the body's digestive enzymes. They are complex carbohydrates.

Oligosaccharides, complex carbohydrates and enzymes

Oligosaccharides are complex carbohydrates composed of three or more monosaccharides (e.g., glucose and fructose) or the union of two or more disaccharides (e.g., lactose).

Humans cannot digest these oligosaccharides because we don't have digestive enzymes such as ⍺-galactosidase, thereby they cannot be hydrolyzed.

Complex carbohydrates are in turn long chains (either branched or unbranched) of monosaccharides linked by glycosidic bonds.

A well-known example of complex carbohydrates (polysaccharides) is starch, which is composed of many subunits of glucose.

Enzymes that break down complex carbohydrates must have the ability to break glycosidic bonds.

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Tension is the major type of stress at transform plate boundaries

Answers

Tension is the major type of stress at divergent plate boundaries. When forces are parallel but moving in opposite directions, the stress is called shear. Shear stress is the most common stress at transform plate boundaries.

______ is a direct result of natural selection ?

A. Increased variation

B. More offspring

C.Adaptation

D. Increased strength

Answers

C. adaptation is a direct result of natural selection
C is the answer, have a good day

QUESTION:-

What is meant by symptoms of a disease?



koii h?​

Answers

Which disease symptoms u would like to know?

Single-celled prokaryotes that are classified by their ability to survive extreme conditions are.

Answers

These are called extremophiles. They survive against in extreme environments against all odds.

In your own words, explain the process of convection.

Answers

Answer:

Convection is a process by which heat is transferred by bulk movements of molecules that are within fluids such as gases and liquids.

Explanation:

Jack needs to determine the missing flower part in this set: pistil, stigma, style, _____ Which part of a flower best completes the set? anther petals stamen ovary.

Answers

Answer: ovary

Explanation:

Which station model represents a location that has the greatest chance of precipitation?
30
191
1
23
82
101
2
81
65
123
3.
60
76
163
4.
66

Answers

The station model that represent a location that has the greatest chance of precipitation is:163

Answer: 2 ( 82 , 101 , 81 )

What type of protein fiber, commonly found in the extracellular matrix, is extensible?.

Answers

Answer:

There are two main types of fibre; collagen, and elastin and fibronectin.

There are two main types of fibre- collagen, and elastin and fibronectin are commonly found in extracellular matrix.

What are the functions of extracellular matrix?

A large network of proteins and other molecules that surround, support, and give structure to cells and tissues in the body. The extracellular matrix helps cells attach to, and communicate with, nearby cells.

The extracellular matrix (ECM) is the non-cellular component present within all tissues and organs, and provides not only essential physical scaffolding for the cellular constituents but also initiates crucial biochemical and biomechanical.

The extracellular matrix helps cells attach to, and communicate with, nearby cells, and plays an important role in cell growth, cell movement, and other cell functions.

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A site on an enzyme other than the active site that can bind molecules and influence the shape of the active site is referred to as a(n)

Answers

A site on an enzyme other than the active site that can bind molecules and influence the shape of the active site is referred to as an allosteric site.

What is an allosteric site?

An allosteric site is a site on an enzyme other than the active site that can bind molecules and influence the shape of the active site.

Enzymes that have an allosteric site are known as an allosteric enzyme.

Allosteric sites serves as a regulatory point for enzyme activity.

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Alfred has drawn a flow chart to show a time sequence of four processes of cellular respiration. Which sequence of three labels is the best choice to finish his model?.

Answers

The sequence that is the best choice to finish the model is glycolysis >> pyruvate processing >> citric acid cycle. They are steps of cellular respiration.

What is cellular respiration?

Cellular respiration is a series of reactions by which aerobic cells produce ATP (energy) by using the energy from foods and oxygen.

Cellular respiration has three main steps: glycolysis, the citric acid cycle and oxidative phosphorylation.

Glycolysis occurs in the cytoplasm, whereas the acid citric cycle and oxidative phosphorylation occur in the mitochondria.

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dna is the nucleuse carries the gentic code for making ribisome in the diagram c is the process by which dna code

Answers

Answer:

mRNA

Explanation:

The mRNA interacts with a specialized complex called a ribosome, which "reads" the sequence of mRNA nucleotides. Each sequence of three nucleotides, called a codon, usually codes for one particular amino acid. (Amino acids are the building blocks of proteins

What is the most common and powerful agent of erosion?

wind
ice
water
animal behavior

Answers

Answer:

water ..................

Answer:

Water is correct...

Explanation:

EDGE

All of these examples show evidence for evolution because they show


and

.

Answers

Answer:

change over time and descent from a common ancestor

Answer:

1. change over time

2. descent from a common ancestor.

Explanation:

i got it right on edge

7. Individual parts of chromosomes
that determine your traits
Genetic crossword puzzle

Answers

The answer : Genes
Genes tell cells how to function and what traits to express

Explain development of pollen grains and ovules​

Answers

Explanation:

Pollen is produced within the anthers (microsporangia or pollen sacs) of the flower. During its development from an undifferentiated mound of cells (anther primordium) the anther forms two general groups of cells. The reproductive or sporogenous cells give rise to the microspores and are formed from cells located centrally within the developing anther. The non-reproductive cells form discrete anther tissues layers and include the epidermal, cortical and tapetal cell layers surrounding the sporogenous cells. The tapetum which is the innermost layer of the pollen sac plays a dominant role particularly during the microspore stage. For example, many male sterile mutations affect tapetal cell functions and development is often arrested during the microspore stage.

Microsporogenesis and microgametogenesis

Two distinct and successive developmental phases, microsporogenesis and microgametogenesis, lead to the production of the mature microgametophytes.

dev

Microsporogenesis comprises the events which lead to the formation of the haploid unicellular microspores. During microsporogenesis the diploid sporogenous cells differentiate as microsporocytes (pollen mother cells or meiocytes) which divide by meiosis to form four haploid microspores. Each diploid meiocyte gives rise to a tetrad of four haploid microspores and microsporogenesis is complete with the formation of distinct single-celled haploid microspores.

Microgametogenesis comprises events which lead to the progressive development of the unicellular microspores into mature microgametophytes containing the gametes. This phase begins with the expansion of the microspore which is commonly associated with the formation of a single large vacuole. Vacuolation is accompanied by the displacement of the microspore nucleus to an eccentric position against the microspore wall. In this position the nucleus undergoes first pollen mitosis (pollen mitosis I) which results in the formation of two unequal cells, a large vegetative cell and a small generative cell each containing a haploid nucleus. The generative cell subsequently detaches from the pollen grain wall and is engulfed by the vegetative cell forming a unique 'cell within a cell' structure. The engulfed generative cell divides once more by mitosis (pollen mitosis II) to form the two sperm cells completely enclosed within the vegetative cell cytoplasm either before pollen is shed (tricellular pollen) or within the pollen tube (bicellular

How would one determine population change?
(5b)
add the deaths and births then subtract the immigrants
add the births and immigrants then subtract the deaths and emigrants
O add the deaths and immigrants then subtract the births
o add the births and immigrants then subtract the emigrants plus births

Answers

It is possible to determine population change by adding the births and immigrants then subtracting the deaths and emigrants. These phenomena modified the size of a population.

What is population change?

A population can be defined as a group of individuals of the same species living in a given area.

The forces that alter the growth/size of a population include birth rate, immigration, death rate, and emigration.

The birth rate and immigration positively impact the size of a population, whereas death rate and emigration negatively impact the population.

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When comparing today's animals to the ones
from the Mesozoic era, which is true?
A. All of the animals from the Mesozoic era are extinct.
B. Most of the animals from the Mesozoic era are extinct.
C. Dinosaurs still roam the Earth.
D. All of the animals are still the same.

Answers

Answer:

A and B should be the answer if you can pick two, but B is the answer.

3. Which of the following is NOT a requirement of populations in Hardy-Weinberg equilibrium?
a. No mutation can occur.
b. Random mating must occur.
C. Small populations are important.
d. Gene flow must not take place.

Answers

I think it might be B but not sure

ASAP Not all genes come in pairs! Your blood type is determined by how many different alleles?

Answers

Two alleles determine your blood type, one which comes from mother and another from father.

Answer:

I think it is determined by the DNA and RNA found in couple's body. i.e due to interplay of chromosomes.

Based on the seismograph measurements in the image, where is the epicenter of this earthquake?

Portland, OR
Salt Lake City, UT
San Francisco, CA
Los Angeles, CA

Answers

Answer: C. san francisco !

Answer: C

Explanation: E2022

Which statement is correct regarding metamorphic rock formation?

Multiple choice question.
cross out

A)
The temperature inside Earth is cooler which allows metamorphic rocks to form more quickly.

cross out

B)
Small pieces of rocks are buried, squeezed, and cemented together.

cross out

C)
Weathering and erosion cause rocks to break down to form metamorphic rocks.

cross out

D)
The deeper into Earth’s crust, the higher the pressure that forms metamorphic rocks.

Answers

Answer:

D is the answer.

Explanation:

The deeper into Earth's crust, the higher the pressure that forms metamorphic rocks.


How does the shape of an algae cell help it function?

Answers

Answer: Microtubules provide a rigid structure, or cytoskeleton. or produce oxygen and consume carbon dioxide

Explanation:

Most cells contain microtubules, which are tubelike structures formed by tubulin proteins. Microtubules appear and disappear as needed in many algae.

What are microtubules?

Microtubules are important cytoskeleton components. They are found in all eukaryotic cells and play roles in mitosis, cell motility, intracellular transport, and cell shape maintenance.

Microtubules are made up of alpha- and beta-tubulin subunits that have been assembled into linear protofilaments.

Microtubules, along with intermediate filaments and microfilaments, are components of the cell skeleton that determine cell shape.

Microtubules play a variety of roles, including mitotic spindle assembly in dividing cells and axon extension in neurons.

Microtubules, which are tubelike structures formed by tubulin proteins, are found in the majority of cells. In many algae, microtubules appear and disappear as needed.

Microtubules provide a rigid structure, or cytoskeleton, in the cell that aids in cell shape determination and maintenance, especially in species lacking cell walls.

Thus, this way, the shape of an algae cell help it function.

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According to your cladogram, which two species are more closely related: worms and
spiders or worms and ants? How do you know?

Answers

Worms and spiders are more closely related. They have more traits in common. ... IT'S THE ORGANISMS WITH LEAST TRAITS IN COMMON AND FARTHEST IN THE CLADOGRAM.

According to cladogram, two species that are more closely related are worms and ants. The correct answer is worms and ants and they both are usually found in the herbivores food.

What is the category of herbivores ?

It is the category in which animals feed on plants and the food based on plants.

Most ants  are  not eating  worms but they may eat dead worms. Ants harm on worms by attacking the worms' food and To protect worms from these types of ants by raising  the level of moisture in worm farm by re-wetting system regularly.

Sometimes, ants make way to compost bins to seek vegetables and fruit scraps meant for worms. This is the only kind of harm inflicted by ants on worms.

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PLEASE HELP!!!!!! BRAINLY FOR BEST AND CORRECT ANSWER!!!!!

James is researching the advantages of varying beak sizes of four bird species in a local habitat. He records and graphs the data to show how many individuals there are in each species with different sizes of beak. The graph is provided. If all four species of birds are transported to a new habitat with completely new food sources, which species will most likely be able to avoid extinction?

Answers

The specie will avoid extinction which have a large amount of food in that environment probably specie B.

Specie that avoid extinction

That specie will most likely be able to avoid extinction which receives more amount of desired food because food is the main source on which all living organism can survive.

If desired food is not available for the organism, its population size decreases and reaches to the point of extinction so we can conclude that the specie will avoid extinction which have a large amount of food in that environment.

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What is the name of a species that is highly connected to the entire food web and whose loss may result in ecosystem collapse

Answers

There are three types of keystone species cited by many scientists: predators, ecosystem engineers, and mutualists. Predators help control the populations of prey species, which in turn affects the quantity of plants and animals further along the food web.

Plants have chlorophyll found in chloroplast in the leaves. The chlorophyll usually helps the plants by
A. absorbing oxygen from the air.


B. capturing energy from sunlight.


C. disguising the plants from predators.


D. protecting the plants from sunlight.

Answers

Answer:

B. capturing energy from sunlight.

Explanation:

chlorophyll is a green substance in a plant which helps the plant capture energy from sunlight and make food and oxygen by the process called photosynthesise.

Octopuses, mammals, and some jellyfish have eyes that contain a lens for focusing light. Eyes with a lens were not present in the common ancestor of these animals. Is an eye with a lens a synapomorphy or a homoplasy?

Answers

Answer:

Synapomorphy !!

Explanation:

An Eye with an lens is specified as a Synapomorphy .

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