Publications by authors named "Mohammed Al Bughaili"
Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease.
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- Progeroid disorders related to De Barsy syndrome (DBS) are categorized as autosomal-recessive cutis laxa type 3 (ARCL3) and are caused by mutations in PYCR1 or ALDH18A1, crucial for the mitochondrial proline cycle.
- In a study of eight individuals diagnosed with DBS or wrinkly skin syndrome, three mutations in ALDH18A1 were identified, all affecting a specific conserved residue (Arg138) in the enzyme P5CS, suggesting a consistent genetic link.
- The study revealed that these mutations alter P5CS's structure and function, leading to decreased enzymatic activity and proline accumulation, providing important information for diagnostic and counseling purposes in related