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Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

Alzheimer Disease l: Introduction

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...

Genetic Lingo

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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Three novel variants in X-linked adrenoleukodystrophy.

Pallavi Shukla¹, Neerja Gupta, Madhulika Kabra

¹Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Journal of Child Neurology

|May 2, 2009

Summary

This study identifies three new ABCD1 gene mutations in Indian families with X-linked adrenoleukodystrophy, a rare inherited neurological disorder. These findings expand the known genetic variations for this condition in the Indian population.

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

X-linked adrenoleukodystrophy (X-ALD) is a severe inherited neurological disorder.
It results from mutations in the ABCD1 gene, affecting peroxisomal very long-chain fatty acid metabolism.
Limited mutation analysis data exists for X-ALD in India.

Purpose of the Study:

To investigate ABCD1 gene mutations in Indian families with X-ALD.
To identify novel variants contributing to the disorder in this population.
To contribute to the understanding of X-ALD genetic landscape in India.

Main Methods:

Mutation analysis of the ABCD1 gene.
Identification and characterization of genetic variants in affected individuals.
Study conducted on three unrelated Indian families.

Main Results:

Three novel ABCD1 gene variants were identified: c.67_83del17, c.395G>A, and c.1938_1939dupGG.
These variants were found in three distinct, unrelated Indian families.
This expands the spectrum of known ABCD1 mutations.

Conclusions:

Novel ABCD1 mutations have been identified in Indian X-ALD patients.
This research highlights the genetic heterogeneity of X-ALD in India.
Further genetic studies are warranted to understand X-ALD prevalence and diversity in India.