Huntington are limited treatment options out there

Huntington disease

Chain A, Crystal Structure
Of Ubiquitin-conjugating Enzyme E2-25kda (Huntington Interacting Protein 2)
M172a Mutant Crystallized At Ph 8.5

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Title:

Huntington
Interacting Protein 2 (HTT) levels in the body and its link toward a mutation on
the Huntington receptor gene.

Abstract:

This
report is going to be a summary on Huntington Disease and also is going to look
at the mutations that can occur in Huntington’s (HTT) in the human body. This
report will also be looking at the treatments that are linked to Huntington’s
(HTT) deficiency in the human body and also a brief overview of the diagnosis.
In this report it is merely an overview of Huntington disease (HTT) there is
going to be no direct emphasis on a particular form of Huntington Disease
(HTT).

Introduction:

Huntington’s
disease (HTT) is
normally an inherited disorder that can be the cause of neurological,
cognitive, and psychiatric symptoms. Most patients with HTT can develop
symptoms in all three of these. Problems in one specific area can influence and
expand the symptoms in another domain. There are limited treatment options out
there for patients who have neurological and cognitive symptoms, also there are
no treatments that exists to slow down the disease progression (A. lAURA, 2008). In contrast, many behavioural
symptoms can respond to psychiatric medication that can be taken. Thorough and
aggressive treatment of psychiatric symptoms can impact patient’s quality of
life, and may allow patients to remain longer in the home. Individuals that have the disease with the
adult-onset form of Huntington disease tend
to live about 15 to 20 years after the first signs and symptoms begin (U.S National
Libray of Medicine, 2013).

 

 

 

 

 

 

 

 

 

Fasta Format:

 

MHHHHHHSSGLVPRGSGMKETAAAKFERQHMDSPDLGTDDDDKAMADIGSEFDMANIAVQRIKREFKEVL

KSEETSKNQIKVDLVDENFTELRGEIAGPPDTPYEGGRYQLEIKIPETYPFNPPKVRFITKIWHPNISSV

TGAICLDILKDQWAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMFKQTARLWAHVYAGAPV

SSPEYTKKIENLCAAGFDRNAVIVALSSKSWDVETATELLLSN

 

Origin
Format:

   1 mhhhhhhssg lvprgsgmke taaakferqh mdspdlgtdd ddkamadigs efdmaniavq  61 rikrefkevl kseetsknqi kvdlvdenft elrgeiagpp dtpyeggryq leikipetyp 121 fnppkvrfit kiwhpnissv tgaicldilk dqwaaamtlr tvllslqall aaaepddpqd 181 avvanqykqn pemfkqtarl wahvyagapv sspeytkkie nlcaagfdrn avivalssks 241 wdvetatell lsn

 

Reverse
Translation of Origin Format:

atgcatcatcatcatcatcatagcagcggcctggtgccgcgcggcagcggcatgaaagaa

accgcggcggcgaaatttgaacgccagcatatggatagcccggatctgggcaccgatgat

gatgataaagcgatggcggatattggcagcgaatttgatatggcgaacattgcggtgcag

cgcattaaacgcgaatttaaagaagtgctgaaaagcgaagaaaccagcaaaaaccagatt

aaagtggatctggtggatgaaaactttaccgaactgcgcggcgaaattgcgggcccgccg

gataccccgtatgaaggcggccgctatcagctggaaattaaaattccggaaacctatccg

tttaacccgccgaaagtgcgctttattaccaaaatttggcatccgaacattagcagcgtg

accggcgcgatttgcctggatattctgaaagatcagtgggcggcggcgatgaccctgcgc

accgtgctgctgagcctgcaggcgctgctggcggcggcggaaccggatgatccgcaggat

gcggtggtggcgaaccagtataaacagaacccggaaatgtttaaacagaccgcgcgcctg

tgggcgcatgtgtatgcgggcgcgccggtgagcagcccggaatataccaaaaaaattgaa

aacctgtgcgcggcgggctttgatcgcaacgcggtgattgtggcgctgagcagcaaaagc

tgggatgtggaaaccgcgaccgaactgctgctgagcaac

 

Crystallised
3D Structure:

 

Figure 1 shows
the crystallised 3D structure of the HTT protein.

 

Amino
Acid Sequence: RNA

AACCAUCAUCAUCAU CAUCAUAGCAGCGGC CUGGUGCCGCGCGGC AGCGGCAUGAAAGAA ACCGCGGCGGCGAAA
 N  H  H  H  H   H  H  S  S  G   L  V  P  R  G   S  G  M  K  E   T  A  A  A  K 
UUUGAACGCCAGCAU AUGGAUAGCCCGGAU CUGGGCACCGAUGAU GAUGAUAAAGCGAUG GCGGAUAUUGGCAGC
 F  E  R  Q  H   M  D  S  P  D   L  G  T  D  D   D  D  K  A  M   A  D  I  G  S 
GAAUUUGAUAUGGCG AACAUUGCGGUGCAG CGCAUUAAACGCGAA UUUAAAGAAGUGCUG AAAAGCGAAGAAACC
 E  F  D  M  A   N  I  A  V  Q   R  I  K  R  E   F  K  E  V  L   K  S  E  E  T 
AGCAAAAACCAGAUU AAAGUGGAUCUGGUG GAUGAAAACUUUACC GAACUGCGCGGCGAA AUUGCGGGCCCGCCG
 S  K  N  Q  I   K  V  D  L  V   D  E  N  F  T   E  L  R  G  E   I  A  G  P  P 
GAUACCCCGUAUGAA GGCGGCCGCUAUCAG CUGGAAAUUAAAAUU CCGGAAACCUAUCCG UUUAACCCGCCGAAA
 D  T  P  Y  E   G  G  R  Y  Q   L  E  I  K  I   P  E  T  Y  P   F  N  P  P  K 
GUGCGCUUUAUUACC AAAAUUUGGCAUCCG AACAUUAGCAGCGUG ACCGGCGCGAUUUGC CUGGAUAUUCUGAAA
 V  R  F  I  T   K  I  W  H  P   N  I  S  S  V   T  G  A  I  C   L  D  I  L  K 
GAUCAGUGGGCGGCG GCGAUGACCCUGCGC ACCGUGCUGCUGAGC CUGCAGGCGCUGCUG GCGGCGGCGGAACCG
 D  Q  W  A  A   A  M  T  L  R   T  V  L  L  S   L  Q  A  L  L   A  A  A  E  P 
GAUGAUCCGCAGGAU GCGGUGGUGGCGAAC CAGUAUAAACAGAAC CCGGAAAUGUUUAAA CAGACCGCGCGCCUG
 D  D  P  Q  D   A  V  V  A  N   Q  Y  K  Q  N   P  E  M  F  K   Q  T  A  R  L 
UGGGCGCAUGUGUAU GCGGGCGCGCCGGUG AGCAGCCCGGAAUAA ACCAAAAAAAUUGAA AACCUGUGCGCGGCG
 W  A  H  V  Y   A  G  A  P  V   S  S  P  E  Y   T  K  K  I  E   N  L  C  A  A 
GGCUUUGAUCGCAAC GCGGUGAUUGUGGCG CUGAGCAGCAAAAGC UGGGAUGUGGAAACC GCGACCGAACUGCUG
 G  F  D  R  N   A  V  I  V  A   L  S  S  K  S   W  D  V  E  T   A  T  E  L  L 
CUGAGCAACAAAAAA AAAAAAAAAAAAAA
 L  S  N K
K K  K K K K K K K
 
 
·        
Beta
Sheets (Secondary Structure)
 
·        
Alpha
Helices (Primary Structure)
 
·        
5’Prime

 
·        
3’Prime
 
·        
Start
Codon (AUG)
 
·        
Stop
Codon (UGA)
 
·        
Poly
A Tail (AAAAAAAAAAAAAAAAAA)
 
·        
PAS Signal (AAUAA)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Crystalized 3D Structure:

 
Figure 2 Shows the highlighted in yellow, secondary structure and primary
structure of the HTT with beta sheets and alpha helices.
 
 
Vector:
 
GAATTCAUGAAAGAA ACCGCGGCGGCGAAA
 
UUUGAACGCCAGCAU AUGGAUAGCCCGGAU CUGGGCACCGAUGAU GAUGAUAAAGCGAUG GCGGAUAUUGGCAGC
  
GAAUUUGAUAUGGCG AACAUUGCGGUGCAG CGCAUUAAACGCGAA UUUAAAGAAGUGCUG AAAAGCGAAGAAACC

AGCAAAAACCAGAUU AAAGUGGAUCUGGUG GAUGAAAACUUUACC GAACUGCGCGGCGAA AUUGCGGGCCCGCCG
 
GAUACCCCGUAUGAA GGCGGCCGCUAUCAG CUGGAAAUUAAAAUU CCGGAAACCUAUCCG UUUAACCCGCCGAAA

GUGCGCUUUAUUACC AAAAUUUGGCAUCCG AACAUUAGCAGCGUG ACCGGCGCGAUUUGC CUGGAUAUUCUGAAA
 
GAUCAGUGGGCGGCG GCGAUGACCCUGCGC ACCGUGCUGCUGAGC CUGCAGGCGCUGCUG GCGGCGGCGGAACCG
 
GAUGAUCCGCAGGAU GCGGUGGUGGCGAAC CAGUAUAAACAGAAC CCGGAAAUGUUUAAA CAGACCGCGCGCCUG
  
UGGGCGCAUGUGUAU GCGGGCGCGCCGGUG AGCAGCCCGGAAUAA ACCAAAAAAAUUGAA AACCUGUGCGCGGCG
 
GGCUUUGAUCGCAAC GCGGUGAUUGUGGCG CUGAGCAGCAAAAGC UGGGAUGUGGAAACC GCGACCGAACUGCUG

CUGACTTAAG
 
·        
Start
Codon (AUG)
 
·        
Stop
Codon (UGA)
 
·        
EcoR1 5’to 3′(GAATTC)
 
·        
EcoR1 3’to 5′(CTTAAG)

  

 

Diagnosis:

Huntington disease
(HTT) is a rare, progressive, and fatal autosomal dominant neurodegenerative
disorder. Typically effects adults (RL, 2003).
In the process of being diagnosed a neurologist will ask the
patient questions and they will conduct a few easy tests to assess the
following:

Motor symptoms

·        
Reflexes

·        
Muscle strength

·        
Muscle tone

·        
Coordination

·        
Balance

 

Sensory symptoms

·        
Sense of touch

·        
Vision and eye movement

·        
Hearing

 

Psychiatric symptoms

·        
Mental status

·        
Mood

 

Neuropsychological testing

The
neurologist can also perform standardized tests to assess:

·        
Memory

·        
Reasoning

·        
Mental agility

·        
Language function

Psychiatric
evaluation

·        
Emotional state

·        
Patterns of behaviors

·        
Quality of judgment

·        
Coping skills

·        
Signs of disordered thinking

·        
Evidence of substance abuse

 

Treatment options:

There are no treatments
to cure Huntington’s disease. But there are some medications that can be
helpful for some of the symptoms such as movement and psychiatric disorders.
There are many ways to intervene that can help a patient adjust to changes in the
patients abilities for a certain amount of time, but over time like any disease
it will eventually get worse. Medication management is likely to change over
the duration of the disease, depending on what the overall treatment goals are (P, 2015). There is some
concerns relating to the drugs used to treat some symptoms that may have
consequences such as side effects that worsen other symptoms. Therefore when a
treatment plan is put in place the plan will be reviewed regularly and also be
updated (A. lAURA, 2008).

Figure 3 shows the molecular components
in HTT

 

References:

 

A. lAURA, W. e. (2008). animal
and translational models for CNS Drug Discovery.
P, D. e. (2015). Huntington disease:
Pathogenesis and treatment. Neurologic Clinics.
RL, M. C. (2003). Diagnosis of
Huntington disease.
U.S National Libray of Medicine. (2013).
 

 

 

 

 

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