Anil D'Souza, PhD Research Associate
Mailing Address: 825 NE 13th Street, MS 24 Oklahoma City, OK 73104-5073	Telephone: (405) 271-7394 Fax: (405) 271-7063
Email: anil-dsouza@omrf.org

Research Interests

1. Systemic lupus erythematosus (SLE) is ten times more common in women then in men.  The question of why women are predisposed to SLE has been asked for several decades.  Instead, we are asking why some men acquire SLE.  The answer that a few men have SLE because they are 47,XXY may lead to an answer of the broader question as to why women get SLE. The hypothesis that a gene dose effect exists is being tested.
2. Prolidase is a ubiquitous cytosolic enzyme that specifically cleaves iminodipeptides containing C-terminal prolyl or hydroxyprolyl residues thus playing an important role in cellular growth. We recently diagnosed 4 Amish children with prolidase deficiency caused by a novel mutation; 265Arg-->STOP. This is the first report of prolidase deficiency in the US. Moreover, it affects an entire population. Currently there is no effective treatment for PD. Population screening will thus empower the affected individuals to seek genetic counseling and make life changing decisions.
3. Sjögren’s syndrome (SS) is an autoimmune disease that is different from the clinically diverse chronic inflammatory disease systemic lupus erythematosus (SLE). SLE appears to result from an immunoregulatory disturbance that is thought to occur due to the interplay of genetic, hormonal, and environmental factors. On the other hand SS is a chronic inflammatory and autoimmune disorder which is characterized by diminished lacrimal and salivary gland secretion (sicca complex) resulting in keratoconjunctivitis sicca and xerostomia. Anti-Ro is found in the sera of up to 50 % of SLE and 90% of SS patients and is associated with several clinical aspects of disease. We have developed a mouse model for SS that mimics the human disease and thus are interested in characterizing this animal model which will lead us to important imsights into the genetics and immunology of SS.

Education

Anil D’Souza, Biji Kurien, Heng Wang, Rosalie Rodgers, Nisha Patel, Kenneth Kaufman, Andrew Porter, David L. Miller and Hal Scofield. Genetic Mutations Associated with Prolidase Deficiency. Manuscript in preparation.

Biji T. Kurien, Anil D’Souza, Rosalie Rodgers, Jaideep Shenoi, Sadamu Kurono, Hiroyuki Matsumoto, Sima Asfa, Kenneth Hensley, Swapan K. Nath and R. Hal Scofield.Detection of catalase as a major protein target of the lipid peroxidation product 4-HNE and the association of a polymorphism in its promoter region as a risk factor in SLE. Manuscript in preparation.

Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH. A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet A. 140(6):580-5, Mar 15, 2006.

Kurien BT, Patel NC, Porter AC, D'Souza A, Miller D, Matsumoto H, Wang H, Scofield RH. Prolidase deficiency and the biochemical assays used in its diagnosis. Anal Biochem. 349(2):165-75, Feb 15, 2006.

Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM. The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA. J Biol Chem. 2005 Oct 28;280(43):36141-9. 2005  Erratum in: J Biol Chem. 280(51):42476, Dec 23, 2005.