Glycogen storage disease is a rare genetic disorder that impairs the body's ability to process glycogen, the stored form of glucose. There are several types of glycogen storage disease caused by deficiencies in different enzymes involved in glycogen breakdown. The most common types are von Gierke disease (type I), Pompe disease (type II), and Cori or Forbes disease (type III). In type I, glycogen builds up in the liver due to a lack of an enzyme to convert glycogen to glucose, leading to low blood sugar and an enlarged liver. Type II affects multiple organs including the heart and muscles. Type III results from a deficiency in the debranching enzyme, causing glycogen to accumulate in the
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke DiseaseRAHUL KATARIA
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke DiseaseRAHUL KATARIA
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Learn everything you need to know about diabetes mellitus and diabetes of all types as well as its causes, symptoms, and risks. Additionally, you'll learn how to diagnose it, how to prevent it from diabetes
SIGNIFICANCE
OVERVIEW
WHAT IS DIABETES?
DEFINITION
MECHANISM
PREVELANCE
EPIDEMIOLOGY
CLASSIFICATION
GESTATIONAL DIABETES
RISK FACTORS
DIAGNOSIS
COMPLICATIONS
MEDICAL TEST
MEDICAL NUTRITIONAL THERAPY
HERBS FOR DIABETES
MYTHS AND FACTS
REFERENCES
Diabetes mellitus refers to a group of diseases that affect how the body uses blood sugar (glucose). Glucose is an important source of energy for the cells that make up the muscles and tissues. It's also the brain's main source of fuel.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
What is greenhouse gasses and how many gasses are there to affect the Earth.moosaasad1975
What are greenhouse gasses how they affect the earth and its environment what is the future of the environment and earth how the weather and the climate effects.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
2. GLYCOGEN-
Glucose is a large energy source for the body. It is stored
by the body in the form of glycogen and released into the
blood as needed with the help of special proteins called
enzymes.
Glycogen is stored in the liver.
When the body needs more energy, certain proteins
called enzymes break down glycogen into glucose. They
send the glucose out into the body.
3. •The liver cannot control the use of glycogen and glucose because
certain enzymes are missing that control the change of sugar
(glucose) into its storage form (glycogen) or release of glucose from
glycogen.
•An abnormal amount of glycogen is stored in the liver.
•Not enough glucose is in the blood (also called hypoglycemia).
•Many sugars (including glucose) are found in foods and are used
by the body as a source of energy. After a meal, blood glucose
levels rise. The body stores the extra glucose that is not needed right
away as glycogen in the liver and muscles. Later, as the blood
glucose levels in the body begin to drop, the body uses this stored
energy.
•These sugars, stored in the form of glycogen, need to be processed
by enzymes in the body before they can carry out their functions. If
the enzymes needed to process them are missing, the glycogen or
one of its related starches can build up in the liver, causing
problems.
4. GLYCOGEN STORAGE DISEASE-
Glycogen storage disease (GSD) is a rare condition that changes
the way the body uses and stores glycogen, a form of sugar or
glucose.
GSD is passed down from parents to children (is hereditary). It is
most often seen in babies or young children. But some forms of
GSD may appear in adults.
5. TYPES-
Types of GSD are grouped by the enzyme that is missing in each
one. Each GSD has its own symptoms and needs different
treatment.
There are several types of GSD, but the most common types are
types I, III, and IV. These types are-
Type I- von Gierke disease.
TypeII- Pompe’s disease.
Type III-Cori disease, or Forbes disease.
Type IV- Andersen’s disease.
TypeV- McArdle’s disease..
TypeVI- Her’s disease.
TypeVII- Tarui’s disease.
6. Type I or von Gierke disease. This is the most common form of GSD. People
with type I don’t have the enzyme needed to turn glycogen into glucose in the
liver. Glycogen builds up in the liver. Symptoms often appear in babies around 3
to 4 months old. They may include low blood sugar (hypoglycemia) and a
swollen belly because of an enlarged liver.
Type II, This can be caused due to defect in Lysosomal alpha- 1,4 glucosidase
(acid maltase) enzyme. This disease can affect any organ. In this disease glycogen
accumulates in lysosomes in almost all the tissues among all, heart is mostly
involved, sometimes nervous system is also affected. Enlargement liver & heart
are seen.
Type III, Cori disease, or Forbes disease. People with type III don’t have
enough of an enzyme called the debranching enzyme, which helps break down
glycogen. The glycogen can’t fully break down. It collects in the liver and in
muscle tissues. Symptoms include a swollen belly, delayed growth, and weak
muscles.
Type IV or Andersen disease. People with type IV form abnormal glycogen.
Experts think the abnormal glycogen triggers the body’s infection-fighting system
(immune system). This creates scarring (cirrhosis) of the liver and other organs
such as muscle and the heart.
7. Type V or McArdle disease (type V glcogenosis)- This can be caused due to defect in
Muscle glycogen phosphorylase enzyme. This disease can affect Skeletal muscle. In this
disease muscle glycogen stores very high, not available during exercise, subject can cot
perform strenous exercise.
Type VI or Her’s disease- This can be caused due to defect in Liver glycogen
phosphorylase enzyme. This disease can affect liver. Characteristic features of this disease
are Liver enlarged, mild hypoglycemia & Ketosis seen. But it is not very serious disease.
Type VIII or Tarui’s disease- This can be caused due to defect in Phosphofructokinase
enzyme. This disease can affect Skeletal muscle erythrocytes. Characteristic features of this
disease are Muscle cramps due to exercise, blood lactate not elevated sometimes hemolysis
caused
8. DIAGNOSIS-
GSD type I is diagnosed by laboratory tests that indicate
abnormal levels of glucose, lactate, uric acid, triglycerides and
cholesterol. Molecular genetic testing for
the G6PC and SLC37A4 genes is available to confirm a diagnosis.
Molecular genetic testing can also be used for carrier testing and
prenatal diagnosis. Liver biopsy can also be used to prove specific
enzyme deficiency for GSD Ia.